SAPA - SNP Annotation Programm for AML
All annotated SNPs are listed below, see SAPA GIT for details.
| ID | Chr | Pos | Ref | Alt | Type | Context | Consequence | dbSNP | COSMIC | ClinVar | Qual | Alt Freq [%] | Total Depth | Ref Depth | Alt Depth | Strand Bias | Chr | Start | End | Ref | Alt | Func_refGene | Gene_refGene | GeneDetail_refGene | ExonicFunc_refGene | AAChange_refGene | cytoBand | esp6500siv2_all | avsnp147 | SIFT_score | SIFT_pred | Polyphen2_HDIV_score | Polyphen2_HDIV_pred | Polyphen2_HVAR_score | Polyphen2_HVAR_pred | LRT_score | LRT_pred | MutationTaster_score | MutationTaster_pred | MutationAssessor_score | MutationAssessor_pred | FATHMM_score | FATHMM_pred | PROVEAN_score | PROVEAN_pred | VEST3_score | CADD_raw | CADD_phred | DANN_score | fathmm_MKL_coding_score | fathmm_MKL_coding_pred | MetaSVM_score | MetaSVM_pred | MetaLR_score | MetaLR_pred | integrated_fitCons_score | integrated_confidence_value | GERP_RS | phyloP7way_vertebrate | phyloP20way_mammalian | phastCons7way_vertebrate | phastCons20way_mammalian | SiPhy_29way_logOdds | final prediction |
| 1735 | 19 | 11100286 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11100286 | 11100286 | G | A | exonic | LDLR | . | stopgain | LDLR:NM_000527:exon2:c.G131A:p.W44X,LDLR:NM_001195798:exon2:c.G131A:p.W44X,LDLR:NM_001195799:exon2:c.G131A:p.W44X,LDLR:NM_001195800:exon2:c.G131A:p.W44X,LDLR:NM_001195803:exon2:c.G131A:p.W44X | 19p13.2 | . | rs267607213 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.263 | 37 | 0.995 | 0.977 | D | . | . | . | . | 0.646 | 0 | 5.37 | 0.917 | 0.998 | 0.984 | 0.979 | 17.874 | Deleterious (FATHMM) |
| 1736 | 19 | 11102662 | A | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102662 | 11102662 | A | G | splicing | LDLR | NM_001195803:exon3:c.191-2A>G,NM_001195798:exon3:c.191-2A>G,NM_000527:exon3:c.191-2A>G,NM_001195800:exon3:c.191-2A>G | . | . | 19p13.2 | . | rs544203837 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.519 | 23.1 | 0.983 | 0.992 | D | . | . | . | . | 0.284 | 0 | 5.59 | 1.062 | 1.140 | 0.703 | 0.429 | 14.730 | Deleterious (FATHMM) |
| 1737 | 19 | 11102732 | T | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102732 | 11102732 | T | G | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_000527:exon3:c.T259G:p.W87G,LDLR:NM_001195798:exon3:c.T259G:p.W87G,LDLR:NM_001195800:exon3:c.T259G:p.W87G,LDLR:NM_001195803:exon3:c.T259G:p.W87G | 19p13.2 | . | rs121908025 | 0.101 | T | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.5 | M | -3.96 | D | -6.51 | D | 0.967 | 6.073 | 28.1 | 0.979 | 0.975 | D | 1.101 | D | 0.954 | D | 0.672 | 0 | 5.65 | 0.991 | 1.011 | 0.503 | 0.892 | 14.85 | Deleterious |
| 1738 | 19 | 11102734 | G | A | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102734 | 11102734 | G | A | exonic | LDLR | . | stopgain | LDLR:NM_000527:exon3:c.G261A:p.W87X,LDLR:NM_001195798:exon3:c.G261A:p.W87X,LDLR:NM_001195800:exon3:c.G261A:p.W87X,LDLR:NM_001195803:exon3:c.G261A:p.W87X | 19p13.2 | . | rs199570811 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.567 | 37 | 0.995 | 0.974 | D | . | . | . | . | 0.672 | 0 | 5.65 | 0.917 | 0.998 | 0.527 | 0.885 | 18.490 | Deleterious (FATHMM) |
| 1739 | 19 | 11102774 | G | A | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102774 | 11102774 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_000527:exon3:c.G301A:p.E101K,LDLR:NM_001195798:exon3:c.G301A:p.E101K,LDLR:NM_001195800:exon3:c.G301A:p.E101K,LDLR:NM_001195803:exon3:c.G301A:p.E101K | 19p13.2 | 7.7e-05 | rs144172724 | 0.025 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.735 | H | -4.61 | D | -3.61 | D | 0.908 | 5.916 | 27.5 | 0.999 | 0.980 | D | 1.034 | D | 0.979 | D | 0.672 | 0 | 4.6 | 0.917 | 0.998 | 0.517 | 0.718 | 15.669 | Deleterious |
| 1740 | 19 | 11102787 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102787 | 11102787 | G | T | splicing | LDLR | NM_001195803:exon3:c.313+1G>T,NM_001195798:exon3:c.313+1G>T,NM_000527:exon3:c.313+1G>T,NM_001195800:exon3:c.313+1G>T | . | . | 19p13.2 | . | rs112029328 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.622 | 23.2 | 0.973 | 0.983 | D | . | . | . | . | 0.284 | 0 | 5.65 | 0.917 | 0.998 | 0.581 | 0.896 | 18.490 | Deleterious (FATHMM) |
| 1741 | 19 | 11102787 | G | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102787 | 11102787 | G | C | splicing | LDLR | NM_001195803:exon3:c.313+1G>C,NM_001195798:exon3:c.313+1G>C,NM_000527:exon3:c.313+1G>C,NM_001195800:exon3:c.313+1G>C | . | . | 19p13.2 | . | rs112029328 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.520 | 23.1 | 0.974 | 0.984 | D | . | . | . | . | 0.284 | 0 | 5.65 | 0.917 | 0.998 | 0.581 | 0.896 | 18.490 | Deleterious (FATHMM) |
| 1742 | 19 | 11102787 | G | A | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11102787 | 11102787 | G | A | splicing | LDLR | NM_001195803:exon3:c.313+1G>A,NM_001195798:exon3:c.313+1G>A,NM_000527:exon3:c.313+1G>A,NM_001195800:exon3:c.313+1G>A | . | . | 19p13.2 | . | rs112029328 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.841 | 23.4 | 0.974 | 0.977 | D | . | . | . | . | 0.284 | 0 | 5.65 | 0.917 | 0.998 | 0.581 | 0.896 | 18.490 | Deleterious (FATHMM) |
| 1743 | 19 | 11105232 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105232 | 11105232 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G203A:p.C68Y,LDLR:NM_000527:exon4:c.G326A:p.C109Y,LDLR:NM_001195798:exon4:c.G326A:p.C109Y | 19p13.2 | . | rs121908042 | 0.001 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.405 | H | -6.07 | D | -9.33 | D | 0.991 | 5.272 | 25.7 | 0.986 | 0.999 | D | 0.961 | D | 0.991 | D | 0.672 | 0 | 5.33 | 0.917 | 0.994 | 0.982 | 0.523 | 17.769 | Deleterious |
| 1744 | 19 | 11105243 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105243 | 11105243 | G | T | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.G214T:p.E72X,LDLR:NM_000527:exon4:c.G337T:p.E113X,LDLR:NM_001195798:exon4:c.G337T:p.E113X | 19p13.2 | . | . | . | . | . | . | . | . | 0.149 | N | 1 | A | . | . | . | . | . | . | . | 9.506 | 35 | 0.997 | 0.994 | D | . | . | . | . | 0.672 | 0 | 1.72 | -0.044 | 0.994 | 0.961 | 0.690 | 9.788 | Deleterious (FATHMM) |
| 1745 | 19 | 11105366 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105366 | 11105366 | C | T | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.C337T:p.Q113X,LDLR:NM_000527:exon4:c.C460T:p.Q154X,LDLR:NM_001195798:exon4:c.C460T:p.Q154X | 19p13.2 | . | . | . | . | . | . | . | . | 0.057 | N | 1 | A | . | . | . | . | . | . | . | 10.832 | 36 | 0.997 | 0.996 | D | . | . | . | . | 0.672 | 0 | 5.6 | 0.871 | 0.888 | 0.312 | 0.048 | 18.374 | Deleterious (FATHMM) |
| 1746 | 19 | 11105407 | C | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105407 | 11105407 | C | A | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.C378A:p.C126X,LDLR:NM_000527:exon4:c.C501A:p.C167X,LDLR:NM_001195798:exon4:c.C501A:p.C167X | 19p13.2 | . | rs752596535 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 7.093 | 33 | 0.982 | 0.908 | D | . | . | . | . | 0.672 | 0 | -3.96 | -0.032 | -1.540 | 0.452 | 0.015 | 12.223 | Deleterious (FATHMM) |
| 1747 | 19 | 11105408 | G | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105408 | 11105408 | G | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G379C:p.D127H,LDLR:NM_000527:exon4:c.G502C:p.D168H,LDLR:NM_001195798:exon4:c.G502C:p.D168H | 19p13.2 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.615 | H | -5.09 | D | -6.36 | D | 0.983 | 5.693 | 26.8 | 0.994 | 0.998 | D | 1.006 | D | 0.986 | D | 0.672 | 0 | 5.6 | 0.917 | 0.994 | 0.433 | 0.020 | 18.374 | Deleterious |
| 1748 | 19 | 11105425 | C | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105425 | 11105425 | C | A | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.C396A:p.C132X,LDLR:NM_000527:exon4:c.C519A:p.C173X,LDLR:NM_001195798:exon4:c.C519A:p.C173X | 19p13.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 5.694 | 26.8 | 0.981 | 0.864 | D | . | . | . | . | 0.672 | 0 | -3.7 | -0.379 | -0.915 | 0.226 | 0.002 | 11.98 | Deleterious (FATHMM) |
| 1749 | 19 | 11105436 | C | T | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105436 | 11105436 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.C407T:p.S136L,LDLR:NM_000527:exon4:c.C530T:p.S177L,LDLR:NM_001195798:exon4:c.C530T:p.S177L | 19p13.2 | . | rs121908026 | 0.038 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.48 | M | -4.55 | D | -5.42 | D | 0.971 | 6.176 | 28.6 | 0.999 | 0.996 | D | 1.094 | D | 0.969 | D | 0.672 | 0 | 5.6 | 0.871 | 0.888 | 0.928 | 0.390 | 18.374 | Deleterious |
| 1750 | 19 | 11105457 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105457 | 11105457 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G428A:p.C143Y,LDLR:NM_000527:exon4:c.G551A:p.C184Y,LDLR:NM_001195798:exon4:c.G551A:p.C184Y | 19p13.2 | . | rs121908039 | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.055 | H | -8.0 | D | -9.28 | D | 0.902 | 5.330 | 25.8 | 0.983 | 0.999 | D | 0.915 | D | 0.998 | D | 0.672 | 0 | 5.6 | 0.917 | 0.994 | 0.007 | 0.006 | 18.374 | Deleterious |
| 1751 | 19 | 11105470 | C | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105470 | 11105470 | C | G | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.C441G:p.Y147X,LDLR:NM_000527:exon4:c.C564G:p.Y188X,LDLR:NM_001195798:exon4:c.C564G:p.Y188X | 19p13.2 | . | rs121908034 | . | . | . | . | . | . | 0.000 | N | 1 | A | . | . | . | . | . | . | . | 3.730 | 23.3 | 0.909 | 0.728 | D | . | . | . | . | 0.672 | 0 | 0.135 | -0.006 | -0.429 | 0.001 | 0.000 | 4.450 | Deleterious (FATHMM) |
| 1752 | 19 | 11105495 | T | C | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105495 | 11105495 | T | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.T466C:p.C156R,LDLR:NM_000527:exon4:c.T589C:p.C197R,LDLR:NM_001195798:exon4:c.T589C:p.C197R | 19p13.2 | . | rs730882085 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | D | 4.61 | H | -6.07 | D | -9.01 | D | 0.884 | 4.628 | 24.5 | 0.992 | 0.995 | D | 0.955 | D | 0.991 | D | 0.672 | 0 | 5.6 | 0.991 | 1.007 | 0.257 | 0.237 | 14.757 | Deleterious |
| 1753 | 19 | 11105496 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105496 | 11105496 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G467A:p.C156Y,LDLR:NM_000527:exon4:c.G590A:p.C197Y,LDLR:NM_001195798:exon4:c.G590A:p.C197Y | 19p13.2 | . | rs376459828 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.61 | H | -6.07 | D | -8.77 | D | 0.92 | 4.854 | 24.9 | 0.982 | 0.998 | D | 0.946 | D | 0.991 | D | 0.672 | 0 | 4.55 | 0.917 | 0.994 | 0.272 | 0.246 | 15.566 | Deleterious |
| 1754 | 19 | 11105567 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105567 | 11105567 | G | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G538T:p.D180Y,LDLR:NM_000527:exon4:c.G661T:p.D221Y,LDLR:NM_001195798:exon4:c.G661T:p.D221Y | 19p13.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.59 | H | -5.36 | D | -8.26 | D | 0.986 | 6.500 | 31 | 0.994 | 0.997 | D | 0.987 | D | 0.988 | D | 0.672 | 0 | 5.6 | 0.917 | 0.994 | 0.574 | 0.589 | 18.374 | Deleterious |
| 1755 | 19 | 11105568 | A | G | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105568 | 11105568 | A | G | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.A539G:p.D180G,LDLR:NM_000527:exon4:c.A662G:p.D221G,LDLR:NM_001195798:exon4:c.A662G:p.D221G | 19p13.2 | 7.7e-05 | rs373822756 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.24 | H | -5.26 | D | -6.43 | D | 0.967 | 6.158 | 28.5 | 0.999 | 0.996 | D | 1.034 | D | 0.983 | D | 0.672 | 0 | 5.6 | 1.062 | 1.136 | 0.743 | 0.772 | 14.757 | Deleterious |
| 1756 | 19 | 11105570 | T | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105570 | 11105570 | T | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.T541C:p.C181R,LDLR:NM_000527:exon4:c.T664C:p.C222R,LDLR:NM_001195798:exon4:c.T664C:p.C222R | 19p13.2 | . | rs577934998 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.69 | H | -5.53 | D | -11.02 | D | 0.999 | 5.654 | 26.7 | 0.997 | 0.995 | D | 0.920 | D | 0.998 | D | 0.672 | 0 | 5.6 | 0.991 | 1.007 | 0.921 | 0.937 | 14.757 | Deleterious |
| 1757 | 19 | 11105576 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105576 | 11105576 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G547A:p.D183N,LDLR:NM_000527:exon4:c.G670A:p.D224N,LDLR:NM_001195798:exon4:c.G670A:p.D224N | 19p13.2 | . | rs387906303 | 0.037 | D | 0.996 | D | 0.994 | D | 0.000 | D | 1 | D | 2.63 | M | -4.36 | D | -4.19 | D | 0.308 | 6.608 | 32 | 0.999 | 0.996 | D | 1.082 | D | 0.980 | D | 0.672 | 0 | 5.6 | 0.917 | 0.994 | 0.998 | 0.997 | 18.374 | Deleterious |
| 1758 | 19 | 11105587 | C | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105587 | 11105587 | C | G | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.C558G:p.D186E,LDLR:NM_000527:exon4:c.C681G:p.D227E,LDLR:NM_001195798:exon4:c.C681G:p.D227E | 19p13.2 | . | rs121908028 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.98 | H | -5.54 | D | -3.68 | D | 0.927 | 5.135 | 25.4 | 0.995 | 0.833 | D | 1.075 | D | 0.978 | D | 0.672 | 0 | -0.195 | -0.514 | -0.356 | 0.927 | 0.690 | 8.441 | Deleterious |
| 1759 | 19 | 11105588 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105588 | 11105588 | G | T | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.G559T:p.E187X,LDLR:NM_000527:exon4:c.G682T:p.E228X,LDLR:NM_001195798:exon4:c.G682T:p.E228X | 19p13.2 | . | rs121908029 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.480 | 42 | 0.997 | 0.997 | D | . | . | . | . | 0.672 | 0 | 5.6 | 0.917 | 0.994 | 0.929 | 0.685 | 18.374 | Deleterious (FATHMM) |
| 1760 | 19 | 11105588 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105588 | 11105588 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon3:c.G559A:p.E187K,LDLR:NM_000527:exon4:c.G682A:p.E228K,LDLR:NM_001195798:exon4:c.G682A:p.E228K | 19p13.2 | . | rs121908029 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.3 | H | -5.18 | D | -3.67 | D | 0.976 | 7.073 | 33 | 0.999 | 0.996 | D | 1.030 | D | 0.984 | D | 0.672 | 0 | 5.6 | 0.917 | 0.994 | 0.929 | 0.685 | 18.374 | Deleterious |
| 1761 | 19 | 11105599 | C | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11105599 | 11105599 | C | A | exonic | LDLR | . | stopgain | LDLR:NM_001195799:exon3:c.C570A:p.C190X,LDLR:NM_000527:exon4:c.C693A:p.C231X,LDLR:NM_001195798:exon4:c.C693A:p.C231X | 19p13.2 | . | rs121908035 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 6.479 | 30 | 0.983 | 0.800 | D | . | . | . | . | 0.672 | 0 | -2.43 | -0.275 | -0.867 | 0.753 | 0.001 | 10.618 | Deleterious (FATHMM) |
| 1762 | 19 | 11106588 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11106588 | 11106588 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195799:exon4:c.G595A:p.E199K,LDLR:NM_001195803:exon4:c.G337A:p.E113K,LDLR:NM_000527:exon5:c.G718A:p.E240K,LDLR:NM_001195798:exon5:c.G718A:p.E240K | 19p13.2 | . | rs768563000 | 0.085 | T | 0.975 | D | 0.922 | D | 0.000 | D | 1 | D | 2.295 | M | -3.86 | D | -2.32 | N | 0.911 | 6.566 | 31 | 0.999 | 0.994 | D | 0.989 | D | 0.902 | D | 0.672 | 0 | 4.05 | 0.917 | 0.937 | 0.989 | 0.943 | 13.764 | Deleterious |
| 1763 | 19 | 11107390 | A | G | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11107390 | 11107390 | A | G | splicing | LDLR | NM_001195799:exon5:c.695-2A>G,NM_001195803:exon5:c.437-2A>G,NM_001195798:exon6:c.818-2A>G,NM_000527:exon6:c.818-2A>G,NM_001195800:exon4:c.314-2A>G | . | . | 19p13.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.208 | 22.7 | 0.985 | 0.962 | D | . | . | . | . | 0.257 | 0 | 5.33 | 1.062 | 1.069 | 0.952 | 0.135 | 14.280 | Deleterious (FATHMM) |
| 1764 | 19 | 11107491 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11107491 | 11107491 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon4:c.C413T:p.S138L,LDLR:NM_001195799:exon5:c.C794T:p.S265L,LDLR:NM_001195803:exon5:c.C536T:p.S179L,LDLR:NM_000527:exon6:c.C917T:p.S306L,LDLR:NM_001195798:exon6:c.C917T:p.S306L | 19p13.2 | . | rs11547917 | 0.001 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.625 | H | -4.55 | D | -4.89 | D | 0.955 | 6.656 | 32 | 0.999 | 0.973 | D | 1.089 | D | 0.970 | D | 0.672 | 0 | 5.33 | 0.871 | 0.837 | 0.996 | 0.979 | 17.789 | Deleterious |
| 1765 | 19 | 11107513 | C | A | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11107513 | 11107513 | C | A | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon4:c.C435A:p.C145X,LDLR:NM_001195799:exon5:c.C816A:p.C272X,LDLR:NM_001195803:exon5:c.C558A:p.C186X,LDLR:NM_000527:exon6:c.C939A:p.C313X,LDLR:NM_001195798:exon6:c.C939A:p.C313X | 19p13.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 5.204 | 25.5 | 0.967 | 0.485 | N | . | . | . | . | 0.672 | 0 | -4.35 | -0.604 | -1.708 | 0.807 | 0.440 | 13.551 | Deleterious (DANN) |
| 1766 | 19 | 11110697 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11110697 | 11110697 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon5:c.G482A:p.C161Y,LDLR:NM_001195799:exon6:c.G863A:p.C288Y,LDLR:NM_001195803:exon6:c.G605A:p.C202Y,LDLR:NM_000527:exon7:c.G986A:p.C329Y,LDLR:NM_001195798:exon7:c.G986A:p.C329Y | 19p13.2 | . | rs761954844 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.715 | H | -5.57 | D | -10.55 | D | 0.997 | 5.279 | 25.7 | 0.986 | 0.996 | D | 1.121 | D | 1.000 | D | 0.672 | 0 | 5.4 | 0.897 | 0.947 | 0.998 | 0.793 | 17.946 | Deleterious |
| 1767 | 19 | 11110744 | C | T | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11110744 | 11110744 | C | T | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon5:c.C529T:p.Q177X,LDLR:NM_001195799:exon6:c.C910T:p.Q304X,LDLR:NM_001195803:exon6:c.C652T:p.Q218X,LDLR:NM_000527:exon7:c.C1033T:p.Q345X,LDLR:NM_001195798:exon7:c.C1033T:p.Q345X | 19p13.2 | . | . | . | . | . | . | . | . | 0.305 | N | 1 | A | . | . | . | . | . | . | . | 10.574 | 36 | 0.997 | 0.779 | D | . | . | . | . | 0.672 | 0 | 5.4 | 0.853 | 0.847 | 0.427 | 0.251 | 12.982 | Deleterious (FATHMM) |
| 1768 | 19 | 11110759 | C | T | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11110759 | 11110759 | C | T | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon5:c.C544T:p.R182X,LDLR:NM_001195799:exon6:c.C925T:p.R309X,LDLR:NM_001195803:exon6:c.C667T:p.R223X,LDLR:NM_000527:exon7:c.C1048T:p.R350X,LDLR:NM_001195798:exon7:c.C1048T:p.R350X | 19p13.2 | . | rs769737896 | . | . | . | . | . | . | 0.915 | N | 1 | A | . | . | . | . | . | . | . | 10.314 | 36 | 0.997 | 0.943 | D | . | . | . | . | 0.672 | 0 | 1.76 | -0.074 | 0.847 | 0.052 | 0.220 | 6.744 | Deleterious (FATHMM) |
| 1769 | 19 | 11110772 | G | A | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11110772 | 11110772 | G | A | splicing | LDLR | NM_001195799:exon6:c.937+1G>A,NM_001195803:exon6:c.679+1G>A,NM_001195798:exon7:c.1060+1G>A,NM_000527:exon7:c.1060+1G>A,NM_001195800:exon5:c.556+1G>A | . | . | 19p13.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.373 | 25.9 | 0.995 | 0.998 | D | . | . | . | . | 0.257 | 0 | 5.19 | 0.897 | 0.947 | 0.615 | 0.770 | 17.488 | Deleterious (FATHMM) |
| 1770 | 19 | 11111629 | C | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11111629 | 11111629 | C | A | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon6:c.C672A:p.C224X,LDLR:NM_001195799:exon7:c.C1053A:p.C351X,LDLR:NM_001195803:exon7:c.C795A:p.C265X,LDLR:NM_000527:exon8:c.C1176A:p.C392X,LDLR:NM_001195798:exon8:c.C1176A:p.C392X | 19p13.2 | . | rs750649426 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.661 | 38 | 0.995 | 0.986 | D | . | . | . | . | 0.672 | 0 | 3.46 | 0.871 | 0.807 | 0.998 | 0.956 | 10.645 | Deleterious (FATHMM) |
| 1771 | 19 | 11113268 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113268 | 11113268 | G | A | intronic | LDLR | . | . | . | 19p13.2 | . | rs765696008 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1772 | 19 | 11113292 | C | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113292 | 11113292 | C | G | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon7:c.C697G:p.L233V,LDLR:NM_001195799:exon8:c.C1078G:p.L360V,LDLR:NM_001195803:exon8:c.C820G:p.L274V,LDLR:NM_000527:exon9:c.C1201G:p.L401V,LDLR:NM_001195798:exon9:c.C1201G:p.L401V | 19p13.2 | 0.0002 | rs146200173 | 0.01 | D | 0.921 | P | 0.869 | P | 0.000 | D | 1 | D | 2.105 | M | -3.03 | D | -2.93 | D | 0.867 | 4.893 | 24.9 | 0.995 | 0.995 | D | 0.858 | D | 0.835 | D | 0.672 | 0 | 4.87 | 0.871 | 0.847 | 0.606 | 0.210 | 16.792 | Deleterious |
| 1773 | 19 | 11113307 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113307 | 11113307 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon7:c.C712T:p.R238W,LDLR:NM_001195799:exon8:c.C1093T:p.R365W,LDLR:NM_001195803:exon8:c.C835T:p.R279W,LDLR:NM_000527:exon9:c.C1216T:p.R406W,LDLR:NM_001195798:exon9:c.C1216T:p.R406W | 19p13.2 | . | rs121908043 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.25 | M | -2.91 | D | -7.32 | D | 0.897 | 6.748 | 32 | 0.999 | 0.972 | D | 1.029 | D | 0.897 | D | 0.672 | 0 | 4.87 | 0.871 | 0.847 | 0.997 | 0.180 | 16.792 | Deleterious |
| 1774 | 19 | 11113337 | C | T | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113337 | 11113337 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon7:c.C742T:p.R248W,LDLR:NM_001195799:exon8:c.C1123T:p.R375W,LDLR:NM_001195803:exon8:c.C865T:p.R289W,LDLR:NM_000527:exon9:c.C1246T:p.R416W,LDLR:NM_001195798:exon9:c.C1246T:p.R416W | 19p13.2 | . | rs570942190 | 0.002 | D | 1.0 | D | 0.993 | D | 0.000 | D | 1 | D | 2.365 | M | -2.8 | D | -6.64 | D | 0.924 | 6.122 | 28.3 | 0.999 | 0.942 | D | 0.801 | D | 0.828 | D | 0.672 | 0 | 3.82 | 0.871 | -0.011 | 0.992 | 0.373 | 13.366 | Deleterious |
| 1775 | 19 | 11113376 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113376 | 11113376 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon7:c.G781A:p.V261M,LDLR:NM_001195799:exon8:c.G1162A:p.V388M,LDLR:NM_001195803:exon8:c.G904A:p.V302M,LDLR:NM_000527:exon9:c.G1285A:p.V429M,LDLR:NM_001195798:exon9:c.G1285A:p.V429M | 19p13.2 | . | rs28942078 | 0.021 | D | 1.0 | D | 0.976 | D | 0.000 | D | 1 | D | 2.88 | M | -2.97 | D | -2.18 | N | 0.817 | 6.453 | 29.9 | 0.999 | 0.965 | D | 0.962 | D | 0.881 | D | 0.672 | 0 | 4.87 | 0.917 | 0.944 | 0.950 | 0.907 | 16.792 | Deleterious |
| 1776 | 19 | 11113382 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113382 | 11113382 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon7:c.G787A:p.A263T,LDLR:NM_001195799:exon8:c.G1168A:p.A390T,LDLR:NM_001195803:exon8:c.G910A:p.A304T,LDLR:NM_000527:exon9:c.G1291A:p.A431T,LDLR:NM_001195798:exon9:c.G1291A:p.A431T | 19p13.2 | . | rs28942079 | 0.001 | D | 0.998 | D | 0.936 | D | 0.000 | D | 1 | D | 2.63 | M | -2.92 | D | -3.78 | D | 0.889 | 7.150 | 34 | 0.999 | 0.989 | D | 0.948 | D | 0.868 | D | 0.672 | 0 | 4.87 | 0.917 | 0.944 | 0.911 | 0.903 | 16.792 | Deleterious |
| 1777 | 19 | 11113413 | T | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113413 | 11113413 | T | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon7:c.T818C:p.I273T,LDLR:NM_001195799:exon8:c.T1199C:p.I400T,LDLR:NM_001195803:exon8:c.T941C:p.I314T,LDLR:NM_000527:exon9:c.T1322C:p.I441T,LDLR:NM_001195798:exon9:c.T1322C:p.I441T | 19p13.2 | . | . | 0.001 | D | 0.961 | D | 0.94 | D | 0.027 | N | 1 | D | 3.745 | H | -4.28 | D | -4.13 | D | 0.919 | 5.672 | 26.7 | 0.998 | 0.987 | D | 1.097 | D | 0.960 | D | 0.672 | 0 | 4.87 | 0.991 | 0.956 | 0.993 | 0.995 | 13.464 | Deleterious |
| 1778 | 19 | 11113451 | T | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113451 | 11113451 | T | A | splicing | LDLR | NM_001195799:exon8:c.1235+2T>A,NM_001195803:exon8:c.977+2T>A,NM_001195798:exon9:c.1358+2T>A,NM_000527:exon9:c.1358+2T>A,NM_001195800:exon7:c.854+2T>A | . | . | 19p13.2 | . | rs193922567 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 4.535 | 24.3 | 0.993 | 0.995 | D | . | . | . | . | 0.070 | 0 | 4.87 | 0.991 | 0.956 | 0.983 | 0.976 | 13.464 | Deleterious (FATHMM) |
| 1779 | 19 | 11113534 | G | A | Pathogenic/Likely pathogenic | LDLR|MIR6886 | . | . | . | . | . | . | . | . | . | . | 19 | 11113534 | 11113534 | G | A | ncRNA_exonic;splicing | MIR6886;LDLR | NM_001195799:exon9:c.1236-1G>A,NM_001195803:exon9:c.978-1G>A,NM_001195798:exon10:c.1359-1G>A,NM_000527:exon10:c.1359-1G>A,NM_001195800:exon8:c.855-1G>A | . | . | 19p13.2 | 7.7e-05 | rs139617694 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.044 | 23.7 | 0.994 | 0.993 | D | . | . | . | . | 0.257 | 0 | 4.55 | 0.917 | 0.944 | 0.054 | 0.424 | 16.108 | Deleterious (FATHMM) |
| 1780 | 19 | 11113590 | G | T | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113590 | 11113590 | G | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon8:c.G910T:p.D304Y,LDLR:NM_001195799:exon9:c.G1291T:p.D431Y,LDLR:NM_001195803:exon9:c.G1033T:p.D345Y,LDLR:NM_000527:exon10:c.G1414T:p.D472Y,LDLR:NM_001195798:exon10:c.G1414T:p.D472Y | 19p13.2 | . | rs730882102 | 0.048 | D | 0.971 | D | 0.96 | D | 0.069 | N | 1 | N | 3.11 | M | -4.3 | D | -4.01 | D | 0.878 | 4.327 | 24.0 | 0.989 | 0.839 | D | 0.669 | D | 0.937 | D | 0.672 | 0 | 2.55 | 0.917 | 0.944 | 0.305 | 0.461 | 6.033 | Deleterious |
| 1781 | 19 | 11113643 | C | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113643 | 11113643 | C | G | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon8:c.C963G:p.Y321X,LDLR:NM_001195799:exon9:c.C1344G:p.Y448X,LDLR:NM_001195803:exon9:c.C1086G:p.Y362X,LDLR:NM_000527:exon10:c.C1467G:p.Y489X,LDLR:NM_001195798:exon10:c.C1467G:p.Y489X | 19p13.2 | 7.7e-05 | rs370777955 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.289 | 39 | 0.997 | 0.984 | D | . | . | . | . | 0.672 | 0 | 4.72 | 0.871 | 0.844 | 0.998 | 0.992 | 10.188 | Deleterious (FATHMM) |
| 1782 | 19 | 11113644 | T | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113644 | 11113644 | T | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon8:c.T964C:p.W322R,LDLR:NM_001195799:exon9:c.T1345C:p.W449R,LDLR:NM_001195803:exon9:c.T1087C:p.W363R,LDLR:NM_000527:exon10:c.T1468C:p.W490R,LDLR:NM_001195798:exon10:c.T1468C:p.W490R | 19p13.2 | . | rs730880130 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.155 | H | -6.75 | D | -13.25 | D | 0.993 | 6.078 | 28.1 | 0.996 | 0.990 | D | 0.938 | D | 0.994 | D | 0.672 | 0 | 4.72 | 0.991 | 0.956 | 0.998 | 0.989 | 13.182 | Deleterious |
| 1783 | 19 | 11113743 | G | A | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113743 | 11113743 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon8:c.G1063A:p.V355M,LDLR:NM_001195799:exon9:c.G1444A:p.V482M,LDLR:NM_001195803:exon9:c.G1186A:p.V396M,LDLR:NM_000527:exon10:c.G1567A:p.V523M,LDLR:NM_001195798:exon10:c.G1567A:p.V523M | 19p13.2 | . | rs28942080 | 0.002 | D | 0.999 | D | 0.986 | D | 0.000 | D | 1.000 | D | 3.605 | H | -4.12 | D | -1.83 | N | 0.865 | 6.462 | 29.9 | 0.999 | 0.990 | D | 1.105 | D | 0.954 | D | 0.672 | 0 | 4.72 | 0.917 | 0.944 | 0.961 | 0.148 | 16.450 | Deleterious |
| 1784 | 19 | 11113764 | T | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11113764 | 11113764 | T | A | splicing | LDLR | NM_001195799:exon9:c.1463+2T>A,NM_001195803:exon9:c.1205+2T>A,NM_001195798:exon10:c.1586+2T>A,NM_000527:exon10:c.1586+2T>A,NM_001195800:exon8:c.1082+2T>A | . | . | 19p13.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.915 | 23.5 | 0.988 | 0.990 | D | . | . | . | . | 0.161 | 0 | 4.72 | 0.991 | 0.956 | 0.663 | 0.141 | 13.182 | Deleterious (FATHMM) |
| 1785 | 19 | 11116106 | G | A | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116106 | 11116106 | G | A | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon9:c.G1095A:p.W365X,LDLR:NM_001195799:exon10:c.G1476A:p.W492X,LDLR:NM_001195803:exon10:c.G1218A:p.W406X,LDLR:NM_000527:exon11:c.G1599A:p.W533X,LDLR:NM_001195798:exon11:c.G1599A:p.W533X | 19p13.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.332 | 45 | 0.998 | 0.989 | D | . | . | . | . | 0.672 | 0 | 5.93 | 0.917 | 1.035 | 0.999 | 0.990 | 19.110 | Deleterious (FATHMM) |
| 1786 | 19 | 11116125 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116125 | 11116125 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon9:c.G1114A:p.A372T,LDLR:NM_001195799:exon10:c.G1495A:p.A499T,LDLR:NM_001195803:exon10:c.G1237A:p.A413T,LDLR:NM_000527:exon11:c.G1618A:p.A540T,LDLR:NM_001195798:exon11:c.G1618A:p.A540T | 19p13.2 | . | rs769370816 | 0.006 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.31 | M | -4.55 | D | -3.75 | D | 0.913 | 5.566 | 26.4 | 0.997 | 0.981 | D | 1.094 | D | 0.965 | D | 0.672 | 0 | 4.88 | 0.917 | 1.035 | 0.988 | 0.795 | 16.037 | Deleterious |
| 1787 | 19 | 11116153 | G | A | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116153 | 11116153 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon9:c.G1142A:p.G381D,LDLR:NM_001195799:exon10:c.G1523A:p.G508D,LDLR:NM_001195803:exon10:c.G1265A:p.G422D,LDLR:NM_000527:exon11:c.G1646A:p.G549D,LDLR:NM_001195798:exon11:c.G1646A:p.G549D | 19p13.2 | . | rs28941776 | 0.0 | D | 0.998 | D | 0.999 | D | 0.000 | U | 1 | D | 4.085 | H | -5.52 | D | -6.6 | D | 0.903 | 4.738 | 24.7 | 0.997 | 0.985 | D | 1.025 | D | 0.984 | D | 0.672 | 0 | 4.76 | 0.917 | 1.035 | 0.924 | 0.175 | 13.854 | Deleterious |
| 1788 | 19 | 11116193 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116193 | 11116193 | G | A | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon9:c.G1182A:p.W394X,LDLR:NM_001195799:exon10:c.G1563A:p.W521X,LDLR:NM_001195803:exon10:c.G1305A:p.W435X,LDLR:NM_000527:exon11:c.G1686A:p.W562X,LDLR:NM_001195798:exon11:c.G1686A:p.W562X | 19p13.2 | . | . | . | . | . | . | . | . | 0.000 | U | 1 | A | . | . | . | . | . | . | . | 13.692 | 43 | 0.993 | 0.989 | D | . | . | . | . | 0.672 | 0 | 5.79 | 0.917 | 1.035 | 0.959 | 0.998 | 18.797 | Deleterious (FATHMM) |
| 1789 | 19 | 11116857 | A | T | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116857 | 11116857 | A | T | splicing | LDLR | NM_001195799:exon11:c.1583-2A>T,NM_001195803:exon11:c.1325-2A>T,NM_001195798:exon12:c.1706-2A>T,NM_000527:exon12:c.1706-2A>T,NM_001195800:exon10:c.1202-2A>T | . | . | 19p13.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.450 | 23.0 | 0.987 | 0.996 | D | . | . | . | . | 0.257 | 0 | 5.61 | 1.062 | 1.066 | 0.499 | 0.095 | 13.773 | Deleterious (FATHMM) |
| 1790 | 19 | 11116873 | C | T | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116873 | 11116873 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon10:c.C1216T:p.R406C,LDLR:NM_001195799:exon11:c.C1597T:p.R533C,LDLR:NM_001195803:exon11:c.C1339T:p.R447C,LDLR:NM_000527:exon12:c.C1720T:p.R574C,LDLR:NM_001195798:exon12:c.C1720T:p.R574C | 19p13.2 | . | rs185098634 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.685 | H | -4.16 | D | -7.53 | D | 0.97 | 7.369 | 34 | 0.999 | 0.993 | D | 1.099 | D | 0.959 | D | 0.672 | 0 | 5.48 | 0.871 | 0.836 | 0.925 | 0.842 | 18.139 | Deleterious |
| 1791 | 19 | 11116884 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116884 | 11116884 | G | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon10:c.G1227T:p.W409C,LDLR:NM_001195799:exon11:c.G1608T:p.W536C,LDLR:NM_001195803:exon11:c.G1350T:p.W450C,LDLR:NM_000527:exon12:c.G1731T:p.W577C,LDLR:NM_001195798:exon12:c.G1731T:p.W577C | 19p13.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.001 | D | 1 | D | 3.865 | H | -6.75 | D | -12.41 | D | 0.982 | 5.887 | 27.4 | 0.992 | 0.991 | D | 0.942 | D | 0.994 | D | 0.672 | 0 | 5.48 | 0.917 | 0.935 | 1.000 | 0.976 | 18.139 | Deleterious |
| 1792 | 19 | 11116898 | T | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116898 | 11116898 | T | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon10:c.T1241C:p.L414P,LDLR:NM_001195799:exon11:c.T1622C:p.L541P,LDLR:NM_001195803:exon11:c.T1364C:p.L455P,LDLR:NM_000527:exon12:c.T1745C:p.L582P,LDLR:NM_001195798:exon12:c.T1745C:p.L582P | 19p13.2 | . | . | 0.002 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.57 | H | -4.05 | D | -6.62 | D | 0.966 | 4.946 | 25.0 | 0.999 | 0.974 | D | 1.089 | D | 0.948 | D | 0.672 | 0 | 5.48 | 0.991 | 0.946 | 0.996 | 0.892 | 10.338 | Deleterious |
| 1793 | 19 | 11116900 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116900 | 11116900 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon10:c.C1243T:p.H415Y,LDLR:NM_001195799:exon11:c.C1624T:p.H542Y,LDLR:NM_001195803:exon11:c.C1366T:p.H456Y,LDLR:NM_000527:exon12:c.C1747T:p.H583Y,LDLR:NM_001195798:exon12:c.C1747T:p.H583Y | 19p13.2 | . | rs730882109 | 0.009 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.505 | M | -2.85 | D | -5.84 | D | 0.963 | 5.280 | 25.7 | 0.997 | 0.985 | D | 0.887 | D | 0.855 | D | 0.672 | 0 | 5.48 | 0.871 | 0.836 | 0.997 | 0.905 | 18.139 | Deleterious |
| 1794 | 19 | 11116928 | G | A | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116928 | 11116928 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon10:c.G1271A:p.G424E,LDLR:NM_001195799:exon11:c.G1652A:p.G551E,LDLR:NM_001195803:exon11:c.G1394A:p.G465E,LDLR:NM_000527:exon12:c.G1775A:p.G592E,LDLR:NM_001195798:exon12:c.G1775A:p.G592E | 19p13.2 | 0.0002 | rs137929307 | 0.001 | D | 0.988 | D | 0.965 | D | 0.000 | D | 1 | D | 3.415 | M | -5.59 | D | -7.45 | D | 0.983 | 5.057 | 25.2 | 0.991 | 0.990 | D | 1.045 | D | 0.984 | D | 0.672 | 0 | 5.48 | 0.917 | 0.931 | 0.817 | 0.136 | 18.139 | Deleterious |
| 1795 | 19 | 11116937 | G | A | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11116937 | 11116937 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon10:c.G1280A:p.R427Q,LDLR:NM_001195799:exon11:c.G1661A:p.R554Q,LDLR:NM_001195803:exon11:c.G1403A:p.R468Q,LDLR:NM_000527:exon12:c.G1784A:p.R595Q,LDLR:NM_001195798:exon12:c.G1784A:p.R595Q | 19p13.2 | . | rs201102492 | 0.001 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 3.335 | M | -4.37 | D | -3.89 | D | 0.961 | 6.775 | 32 | 0.999 | 0.990 | D | 1.101 | D | 0.961 | D | 0.672 | 0 | 5.48 | 0.917 | 0.931 | 0.342 | 0.643 | 18.139 | Deleterious |
| 1796 | 19 | 11120091 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120091 | 11120091 | G | A | splicing | LDLR | NM_001195799:exon12:c.1723-1G>A,NM_001195803:exon12:c.1465-1G>A,NM_001195798:exon13:c.1846-1G>A,NM_000527:exon13:c.1846-1G>A,NM_001195800:exon11:c.1342-1G>A | . | . | 19p13.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.120 | 25.4 | 0.995 | 0.994 | D | . | . | . | . | 0.257 | 0 | 5.37 | 0.917 | 1.032 | 0.874 | 0.864 | 17.942 | Deleterious (FATHMM) |
| 1797 | 19 | 11120143 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120143 | 11120143 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon11:c.C1393T:p.R465C,LDLR:NM_001195799:exon12:c.C1774T:p.R592C,LDLR:NM_001195803:exon12:c.C1516T:p.R506C,LDLR:NM_000527:exon13:c.C1897T:p.R633C,LDLR:NM_001195798:exon13:c.C1897T:p.R633C | 19p13.2 | . | rs746118995 | 0.0 | D | 0.996 | D | 0.928 | D | 0.006 | N | 1 | D | 2.9 | M | -3.96 | D | -6.65 | D | 0.962 | 6.877 | 33 | 0.999 | 0.969 | D | 1.057 | D | 0.932 | D | 0.672 | 0 | 5.37 | 0.871 | 0.925 | 0.995 | 0.979 | 12.976 | Deleterious |
| 1798 | 19 | 11120144 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120144 | 11120144 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon11:c.G1394A:p.R465H,LDLR:NM_001195799:exon12:c.G1775A:p.R592H,LDLR:NM_001195803:exon12:c.G1517A:p.R506H,LDLR:NM_000527:exon13:c.G1898A:p.R633H,LDLR:NM_001195798:exon13:c.G1898A:p.R633H | 19p13.2 | . | rs754536745 | 0.001 | D | 1.0 | D | 0.995 | D | 0.006 | N | 1.000 | D | 2.9 | M | -3.95 | D | -4.0 | D | 0.923 | 5.914 | 27.5 | 0.999 | 0.986 | D | 1.069 | D | 0.936 | D | 0.672 | 0 | 4.33 | 0.917 | 1.036 | 0.995 | 0.980 | 13.01 | Deleterious |
| 1799 | 19 | 11120382 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120382 | 11120382 | G | A | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon12:c.G1496A:p.C499Y,LDLR:NM_001195799:exon13:c.G1877A:p.C626Y,LDLR:NM_000527:exon14:c.G2000A:p.C667Y,LDLR:NM_001195798:exon14:c.G2000A:p.C667Y | 19p13.2 | . | rs28942083 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.33 | H | -5.56 | D | -10.33 | D | 0.99 | 6.427 | 29.7 | 0.998 | 0.997 | D | 0.982 | D | 0.989 | D | 0.672 | 0 | 5.45 | 0.917 | 1.048 | 0.988 | 0.993 | 18.056 | Deleterious |
| 1800 | 19 | 11120411 | T | C | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120411 | 11120411 | T | C | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon12:c.T1525C:p.C509R,LDLR:NM_001195799:exon13:c.T1906C:p.C636R,LDLR:NM_000527:exon14:c.T2029C:p.C677R,LDLR:NM_001195798:exon14:c.T2029C:p.C677R | 19p13.2 | . | rs775092314 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.535 | H | -6.92 | D | -11.27 | D | 0.993 | 5.108 | 25.3 | 0.991 | 0.994 | D | 0.901 | D | 0.996 | D | 0.672 | 0 | 5.3 | 0.991 | 1.061 | 0.980 | 0.867 | 14.235 | Deleterious |
| 1801 | 19 | 11120425 | C | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120425 | 11120425 | C | A | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon12:c.C1539A:p.C513X,LDLR:NM_001195799:exon13:c.C1920A:p.C640X,LDLR:NM_000527:exon14:c.C2043A:p.C681X,LDLR:NM_001195798:exon14:c.C2043A:p.C681X | 19p13.2 | . | rs121908031 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 7.582 | 34 | 0.977 | 0.913 | D | . | . | . | . | 0.672 | 0 | -4.88 | -0.032 | -0.756 | 0.945 | 0.374 | 18.023 | Deleterious (FATHMM) |
| 1802 | 19 | 11120435 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120435 | 11120435 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon12:c.C1549T:p.P517S,LDLR:NM_001195799:exon13:c.C1930T:p.P644S,LDLR:NM_000527:exon14:c.C2053T:p.P685S,LDLR:NM_001195798:exon14:c.C2053T:p.P685S | 19p13.2 | . | rs2569548 | 0.004 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 2.485 | M | -4.3 | D | -7.5 | D | 0.898 | 5.801 | 27.1 | 0.999 | 0.994 | D | 1.095 | D | 0.947 | D | 0.672 | 0 | 5.3 | 0.871 | 0.935 | 0.892 | 0.044 | 17.733 | Deleterious |
| 1803 | 19 | 11120436 | C | T | Pathogenic/Likely pathogenic, not provided | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120436 | 11120436 | C | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon12:c.C1550T:p.P517L,LDLR:NM_001195799:exon13:c.C1931T:p.P644L,LDLR:NM_000527:exon14:c.C2054T:p.P685L,LDLR:NM_001195798:exon14:c.C2054T:p.P685L | 19p13.2 | 0.0002 | rs28942084 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.27 | M | -4.35 | D | -9.38 | D | 0.937 | 6.568 | 31 | 0.999 | 0.994 | D | 1.102 | D | 0.960 | D | 0.672 | 0 | 5.3 | 0.871 | 0.935 | 0.886 | 0.041 | 17.733 | Deleterious |
| 1804 | 19 | 11120438 | C | T | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120438 | 11120438 | C | T | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon12:c.C1552T:p.Q518X,LDLR:NM_001195799:exon13:c.C1933T:p.Q645X,LDLR:NM_000527:exon14:c.C2056T:p.Q686X,LDLR:NM_001195798:exon14:c.C2056T:p.Q686X | 19p13.2 | . | . | . | . | . | . | . | . | 0.006 | N | 1 | A | . | . | . | . | . | . | . | 10.988 | 37 | 0.993 | 0.990 | D | . | . | . | . | 0.672 | 0 | 4.27 | 0.871 | 0.935 | 0.908 | 0.059 | 12.836 | Deleterious (FATHMM) |
| 1805 | 19 | 11120475 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120475 | 11120475 | G | T | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_001195800:exon12:c.G1589T:p.C530F,LDLR:NM_001195799:exon13:c.G1970T:p.C657F,LDLR:NM_000527:exon14:c.G2093T:p.C698F,LDLR:NM_001195798:exon14:c.G2093T:p.C698F | 19p13.2 | . | . | 0.001 | D | 1.0 | D | 0.989 | D | 0.000 | D | 1 | D | 4.51 | H | -10.09 | D | -9.86 | D | 0.987 | 5.731 | 26.9 | 0.993 | 0.996 | D | 1.095 | D | 1.000 | D | 0.672 | 0 | 5.3 | 0.917 | 1.048 | 0.996 | 0.720 | 17.733 | Deleterious |
| 1806 | 19 | 11120522 | G | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120522 | 11120522 | G | T | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon12:c.G1636T:p.E546X,LDLR:NM_001195799:exon13:c.G2017T:p.E673X,LDLR:NM_000527:exon14:c.G2140T:p.E714X,LDLR:NM_001195798:exon14:c.G2140T:p.E714X | 19p13.2 | . | . | . | . | . | . | . | . | 0.693 | U | 1 | A | . | . | . | . | . | . | . | 13.754 | 43 | 0.997 | 0.995 | D | . | . | . | . | 0.672 | 0 | 5.17 | 0.917 | 1.048 | 0.464 | 0.975 | 17.433 | Deleterious (FATHMM) |
| 1807 | 19 | 11120523 | G | A | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11120523 | 11120523 | G | A | splicing | LDLR | NM_001195799:exon13:c.2017+1G>A,NM_001195798:exon14:c.2140+1G>A,NM_000527:exon14:c.2140+1G>A,NM_001195800:exon12:c.1636+1G>A | . | . | 19p13.2 | 7.7e-05 | rs145787161 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.232 | 25.6 | 0.995 | 0.996 | D | . | . | . | . | 0.284 | 0 | 5.17 | 0.917 | 1.048 | 0.442 | 0.949 | 17.433 | Deleterious (FATHMM) |
| 1808 | 19 | 11123248 | C | T | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11123248 | 11123248 | C | T | exonic | LDLR | . | stopgain | LDLR:NM_001195800:exon13:c.C1711T:p.Q571X,LDLR:NM_001195803:exon13:c.C1681T:p.Q561X,LDLR:NM_001195799:exon14:c.C2092T:p.Q698X,LDLR:NM_000527:exon15:c.C2215T:p.Q739X,LDLR:NM_001195798:exon15:c.C2215T:p.Q739X | 19p13.2 | . | . | . | . | . | . | . | . | 0.003 | U | 1 | A | . | . | . | . | . | . | . | 8.245 | 35 | 0.923 | 0.088 | N | . | . | . | . | 0.672 | 0 | 0.372 | 0.598 | -0.648 | 0.006 | 0.001 | 4.825 | |
| 1809 | 19 | 11129671 | G | A | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11129671 | 11129671 | G | A | splicing | LDLR | NM_001195799:exon16:c.2424+1G>A,NM_001195803:exon15:c.2013+1G>A,NM_001195798:exon17:c.2547+1G>A,NM_000527:exon17:c.2547+1G>A,NM_001195800:exon15:c.2043+1G>A | . | . | 19p13.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.946 | 25.0 | 0.995 | 0.989 | D | . | . | . | . | 0.257 | 0 | 4.82 | 0.917 | 0.911 | 0.979 | 0.970 | 17.023 | Deleterious (FATHMM) |
| 1810 | 19 | 12657482 | C | A | Pathogenic/Likely pathogenic | MAN2B1 | . | . | . | . | . | . | . | . | . | . | 19 | 12657482 | 12657482 | C | A | exonic | MAN2B1 | . | synonymous SNV | MAN2B1:NM_000528:exon11:c.C1383T:p.Y461Y,MAN2B1:NM_001173498:exon11:c.C1380T:p.Y460Y | 19p13.13 | . | rs775200333 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1811 | 19 | 12891965 | C | T | Pathogenic/Likely pathogenic | GCDH | . | . | . | . | . | . | . | . | . | . | 19 | 12891965 | 12891965 | C | T | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon4:c.C262T:p.R88C,GCDH:NM_013976:exon4:c.C262T:p.R88C | 19p13.13 | 0.0002 | rs142967670 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 4.505 | H | -5.34 | D | -7.19 | D | 0.944 | 7.973 | 35 | 0.999 | 0.842 | D | 0.927 | D | 0.994 | D | 0.767 | 0 | 5.31 | 0.871 | 0.932 | 0.995 | 0.997 | 16.461 | Deleterious |
| 1812 | 19 | 12893564 | C | T | Pathogenic/Likely pathogenic | GCDH | . | . | . | . | . | . | . | . | . | . | 19 | 12893564 | 12893564 | C | T | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon6:c.C416T:p.S139L,GCDH:NM_013976:exon6:c.C416T:p.S139L | 19p13.13 | 7.7e-05 | rs139851890 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.585 | M | -6.3 | D | -5.64 | D | 0.972 | 7.573 | 34 | 0.999 | 0.980 | D | 1.036 | D | 0.985 | D | 0.732 | 0 | 5.19 | 0.871 | 0.848 | 0.936 | 0.634 | 16.567 | Deleterious |
| 1813 | 19 | 12893630 | G | A | Pathogenic/Likely pathogenic | GCDH | . | . | . | . | . | . | . | . | . | . | 19 | 12893630 | 12893630 | G | A | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon6:c.G482A:p.R161Q,GCDH:NM_013976:exon6:c.G482A:p.R161Q | 19p13.13 | . | rs777201305 | 0.05 | D | 0.865 | P | 0.406 | B | 0.002 | N | 0.883 | N | 2.295 | M | -6.55 | D | -2.12 | N | 0.673 | 4.742 | 24.7 | 0.999 | 0.709 | D | 1.043 | D | 0.963 | D | 0.707 | 0 | 2.04 | -0.011 | 0.064 | 0.989 | 0.984 | 7.729 | Deleterious |
| 1814 | 19 | 12896249 | G | C | Pathogenic/Likely pathogenic | GCDH | . | . | . | . | . | . | . | . | . | . | 19 | 12896249 | 12896249 | G | C | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon8:c.G680C:p.R227P,GCDH:NM_013976:exon8:c.G680C:p.R227P | 19p13.13 | 0.0002 | rs121434373 | 0.008 | D | 0.361 | B | 0.116 | B | 0.015 | N | 0.999 | A | 3.485 | M | -4.23 | D | -3.38 | D | 0.813 | 3.462 | 23.0 | 0.982 | 0.871 | D | 0.644 | D | 0.863 | D | 0.707 | 0 | 0.235 | -0.045 | 0.953 | 0.970 | 1.000 | 1.044 | Deleterious |
| 1815 | 19 | 12897818 | G | A | Pathogenic | GCDH | . | . | . | . | . | . | . | . | . | . | 19 | 12897818 | 12897818 | G | A | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon11:c.G1198A:p.V400M,GCDH:NM_013976:exon11:c.G1198A:p.V400M | 19p13.13 | . | rs121434372 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1.000 | A | 3.325 | M | -4.1 | D | -2.46 | N | 0.879 | 5.397 | 26.0 | 0.999 | 0.928 | D | 1.135 | D | 0.943 | D | 0.707 | 0 | 5.75 | 0.917 | 1.048 | 1.000 | 0.996 | 10.81 | Deleterious |
| 1816 | 19 | 12897824 | C | T | Pathogenic | GCDH | . | . | . | . | . | . | . | . | . | . | 19 | 12897824 | 12897824 | C | T | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon11:c.C1204T:p.R402W,GCDH:NM_013976:exon11:c.C1204T:p.R402W | 19p13.13 | 0.0005 | rs121434369 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.845 | H | -4.37 | D | -7.52 | D | 0.981 | 8.370 | 35 | 0.999 | 0.960 | D | 1.055 | D | 0.973 | D | 0.707 | 0 | 5.45 | 0.871 | 0.935 | 1.000 | 0.998 | 12.134 | Deleterious |
| 1817 | 19 | 12899486 | C | T | Pathogenic | GCDH|SYCE2 | . | . | . | . | . | . | . | . | . | . | 19 | 12899486 | 12899486 | C | T | exonic | GCDH | . | nonsynonymous SNV | GCDH:NM_000159:exon12:c.C1262T:p.A421V | 19p13.13 | . | rs121434367 | 0.0 | D | 1.0 | D | 0.983 | D | 0.000 | D | 1 | A | 3.42 | M | -3.9 | D | -3.7 | D | 0.986 | 7.665 | 35 | 0.999 | 0.995 | D | 1.087 | D | 0.943 | D | 0.732 | 0 | 5.45 | 0.871 | 0.848 | 0.996 | 0.995 | 17.150 | Deleterious |
| 1818 | 19 | 13025513 | G | T | Pathogenic/Likely pathogenic | NFIX | . | . | . | . | . | . | . | . | . | . | 19 | 13025513 | 13025513 | G | T | exonic | NFIX | . | stopgain | NFIX:NM_001271043:exon2:c.G544T:p.E182X,NFIX:NM_001271044:exon2:c.G496T:p.E166X,NFIX:NM_002501:exon2:c.G520T:p.E174X | 19p13.13 | . | rs786205515 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.147 | 38 | 0.997 | 0.990 | D | . | . | . | . | 0.660 | 0 | 5.38 | 0.917 | 1.045 | 1.000 | 1.000 | 17.904 | Deleterious (FATHMM) |
| 1819 | 19 | 13913639 | G | T | Pathogenic | CC2D1A | . | . | . | . | . | . | . | . | . | . | 19 | 13913639 | 13913639 | G | T | splicing | CC2D1A | NM_017721:exon6:c.748+1G>T | . | . | 19p13.12 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.105 | 23.7 | 0.992 | 0.909 | D | . | . | . | . | 0.116 | 0 | 3.44 | 0.917 | 0.970 | 0.596 | 0.946 | 9.866 | Deleterious (FATHMM) |
| 1820 | 19 | 17837148 | C | T | Pathogenic/Likely pathogenic | JAK3 | . | . | . | . | . | . | . | . | . | . | 19 | 17837148 | 17837148 | C | T | exonic | JAK3 | . | synonymous SNV | JAK3:NM_000215:exon13:c.C1767A:p.G589G | 19p13.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1821 | 19 | 18162974 | G | A | Pathogenic/Likely pathogenic | PIK3R2 | . | . | . | . | . | . | . | . | . | . | 19 | 18162974 | 18162974 | G | A | exonic | PIK3R2 | . | nonsynonymous SNV | PIK3R2:NM_005027:exon10:c.G1117A:p.G373R | 19p13.11 | . | rs587776934 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.695 | M | -0.18 | T | -7.38 | D | 0.895 | 5.888 | 27.4 | 0.999 | 0.993 | D | 0.089 | D | 0.464 | T | 0.707 | 0 | 3.69 | 0.917 | 0.877 | 0.999 | 0.764 | 15.323 | Tolerated |
| 1822 | 19 | 32862521 | G | A | Pathogenic/Likely pathogenic | SLC7A9 | . | . | . | . | . | . | . | . | . | . | 19 | 32862521 | 32862521 | G | A | exonic | SLC7A9 | . | nonsynonymous SNV | SLC7A9:NM_001126335:exon5:c.G544T:p.A182S,SLC7A9:NM_001243036:exon5:c.G544T:p.A182S,SLC7A9:NM_014270:exon5:c.G544T:p.A182S | 19q13.11 | . | rs79389353 | 0.062 | T | 0.286 | B | 0.318 | B | 0.000 | D | 0.989 | D | 2.47 | M | -2.57 | D | -2.01 | N | 0.392 | 3.797 | 23.4 | 0.993 | 0.700 | D | 0.320 | D | 0.733 | D | 0.554 | 0 | 5.54 | 0.871 | 0.935 | 0.955 | 0.018 | 19.831 | Deleterious |
| 1823 | 19 | 35033654 | C | G | Pathogenic/Likely pathogenic | SCN1B | . | . | . | . | . | . | . | . | . | . | 19 | 35033654 | 35033654 | C | G | exonic | SCN1B | . | nonsynonymous SNV | SCN1B:NM_001037:exon3:c.C363G:p.C121W,SCN1B:NM_199037:exon3:c.C363G:p.C121W | 19q13.11 | 7.7e-05 | rs104894718 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 1.745 | L | -2.6 | D | -9.57 | D | 0.978 | 6.115 | 28.3 | 0.994 | 0.939 | D | 0.587 | D | 0.722 | D | 0.707 | 0 | 3.17 | -0.192 | 0.049 | 0.995 | 0.998 | 7.271 | Deleterious |
| 1824 | 19 | 35845430 | G | T | Pathogenic/Likely pathogenic | NPHS1 | . | . | . | . | . | . | . | . | . | . | 19 | 35845430 | 35845430 | G | T | exonic | NPHS1 | . | nonsynonymous SNV | NPHS1:NM_004646:exon14:c.G1868A:p.C623Y | 19q13.12 | . | . | 0.039 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 2.605 | M | -5.91 | D | -9.39 | D | 0.97 | 5.649 | 26.7 | 0.996 | 0.909 | D | 1.047 | D | 0.982 | D | 0.598 | 0 | 4.56 | 0.853 | 0.934 | 0.347 | 0.741 | 15.207 | Deleterious |
| 1825 | 19 | 38457545 | C | T | Pathogenic, not provided, risk factor | RYR1 | . | . | . | . | . | . | . | . | . | . | 19 | 38457545 | 38457545 | C | T | exonic | RYR1 | . | nonsynonymous SNV | RYR1:NM_000540:exon17:c.C1840T:p.R614C,RYR1:NM_001042723:exon17:c.C1840T:p.R614C | 19q13.2 | 7.7e-05 | rs118192172 | 0.005 | D | 1.0 | D | 0.999 | D | 0.000 | U | 1.000 | D | 2.89 | M | -3.86 | D | -7.37 | D | 0.932 | 7.746 | 35 | 0.999 | 0.888 | D | 1.012 | D | 0.918 | D | 0.707 | 0 | 3.76 | -0.058 | 0.852 | 0.933 | 0.979 | 11.066 | Deleterious |
| 1826 | 19 | 38586150 | C | G | Pathogenic/Likely pathogenic | RYR1 | . | . | . | . | . | . | . | . | . | . | 19 | 38586150 | 38586150 | C | G | exonic | RYR1 | . | nonsynonymous SNV | RYR1:NM_001042723:exon103:c.C14913G:p.F4971L,RYR1:NM_000540:exon104:c.C14928G:p.F4976L | 19q13.2 | . | rs368874586 | 0.0 | D | 0.996 | D | 0.988 | D | 0.000 | U | 0.993 | D | 3.73 | H | -6.07 | D | -4.98 | D | 0.9 | 2.742 | 21.0 | 0.688 | 0.369 | N | 1.080 | D | 0.984 | D | 0.706 | 0 | -6.39 | -1.024 | -2.909 | 0.970 | 0.064 | 16.131 | Deleterious |
| 1827 | 19 | 40395495 | C | T | Pathogenic | PRX | . | . | . | . | . | . | . | . | . | . | 19 | 40395495 | 40395495 | C | T | exonic | PRX | . | synonymous SNV | PRX:NM_181882:exon7:c.C2857A:p.R953R | 19q13.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1828 | 19 | 41410817 | G | A | Pathogenic | BCKDHA | . | . | . | . | . | . | . | . | . | . | 19 | 41410817 | 41410817 | G | A | splicing | BCKDHA | NM_000709:exon2:c.288+1G>A,NM_001164783:exon2:c.288+1G>A | . | . | 19q13.2 | . | rs398123496 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.848 | 27.3 | 0.995 | 0.997 | D | . | . | . | . | 0.322 | 0 | 5.42 | 0.866 | 1.048 | 0.991 | 0.825 | 17.984 | Deleterious (FATHMM) |
| 1829 | 19 | 41422370 | G | C | Pathogenic | BCKDHA | . | . | . | . | . | . | . | . | . | . | 19 | 41422370 | 41422370 | G | C | exonic | BCKDHA | . | nonsynonymous SNV | BCKDHA:NM_000709:exon6:c.G853C:p.A285P,BCKDHA:NM_001164783:exon6:c.G853C:p.A285P | 19q13.2 | . | rs398123508 | 0.003 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.53 | H | -3.95 | D | -4.49 | D | 0.975 | 5.171 | 25.5 | 0.997 | 0.996 | D | 1.079 | D | 0.967 | D | 0.732 | 0 | 4.91 | 0.917 | 1.045 | 0.909 | 0.490 | 17.026 | Deleterious |
| 1830 | 19 | 41422643 | G | A | Pathogenic | BCKDHA | . | . | . | . | . | . | . | . | . | . | 19 | 41422643 | 41422643 | G | A | exonic | BCKDHA | . | nonsynonymous SNV | BCKDHA:NM_000709:exon7:c.G868A:p.G290R,BCKDHA:NM_001164783:exon7:c.G865A:p.G289R | 19q13.2 | . | rs137852871 | 0.001 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | A | 3.915 | H | -4.45 | D | -5.17 | D | 0.986 | 6.720 | 32 | 0.999 | 0.987 | D | 1.090 | D | 0.968 | D | 0.732 | 0 | 5.69 | 0.917 | 1.048 | 0.991 | 0.643 | 18.590 | Deleterious |
| 1831 | 19 | 41422754 | G | A | Pathogenic/Likely pathogenic | BCKDHA | . | . | . | . | . | . | . | . | . | . | 19 | 41422754 | 41422754 | G | A | exonic | BCKDHA | . | nonsynonymous SNV | BCKDHA:NM_000709:exon7:c.G979A:p.E327K,BCKDHA:NM_001164783:exon7:c.G976A:p.E326K | 19q13.2 | . | rs398123515 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.885 | H | -4.7 | D | -3.8 | D | 0.995 | 7.899 | 35 | 0.999 | 0.990 | D | 1.020 | D | 0.982 | D | 0.707 | 0 | 5.69 | 0.917 | 1.048 | 0.996 | 0.915 | 18.590 | Deleterious |
| 1832 | 19 | 41424504 | G | A | Pathogenic | BCKDHA | . | . | . | . | . | . | . | . | . | . | 19 | 41424504 | 41424504 | G | A | exonic | BCKDHA | . | nonsynonymous SNV | BCKDHA:NM_000709:exon9:c.G1234A:p.V412M,BCKDHA:NM_001164783:exon9:c.G1231A:p.V411M | 19q13.2 | . | rs398123490 | 0.007 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.38 | M | -5.69 | D | -2.67 | D | 0.898 | 6.417 | 29.7 | 0.999 | 0.963 | D | 1.064 | D | 0.981 | D | 0.707 | 0 | 4.26 | 0.917 | 1.048 | 0.997 | 0.703 | 12.615 | Deleterious |
| 1833 | 19 | 41424582 | T | A | Pathogenic | BCKDHA | . | . | . | . | . | . | . | . | . | . | 19 | 41424582 | 41424582 | T | A | exonic | BCKDHA | . | nonsynonymous SNV | BCKDHA:NM_000709:exon9:c.T1312A:p.Y438N,BCKDHA:NM_001164783:exon9:c.T1309A:p.Y437N | 19q13.2 | 0.0002 | rs137852870 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | A | 3.285 | M | -5.57 | D | -8.3 | D | 0.882 | 6.091 | 28.2 | 0.992 | 0.962 | D | 1.047 | D | 0.983 | D | 0.713 | 0 | 5.45 | 0.991 | 1.061 | 1.000 | 0.990 | 14.498 | Deleterious |
| 1834 | 19 | 41970275 | G | A | Pathogenic | ATP1A3 | . | . | . | . | . | . | . | . | . | . | 19 | 41970275 | 41970275 | G | A | exonic | ATP1A3 | . | stopgain | ATP1A3:NM_001256213:exon18:c.G2485T:p.E829X,ATP1A3:NM_001256214:exon18:c.G2491T:p.E831X,ATP1A3:NM_152296:exon18:c.G2452T:p.E818X | 19q13.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.523 | 42 | 0.997 | 0.971 | D | . | . | . | . | 0.626 | 0 | 3.88 | 0.868 | 0.925 | 0.871 | 0.920 | 13.752 | Deleterious (FATHMM) |
| 1835 | 19 | 41970405 | G | A | Pathogenic | ATP1A3 | . | . | . | . | . | . | . | . | . | . | 19 | 41970405 | 41970405 | G | A | exonic | ATP1A3 | . | nonsynonymous SNV | ATP1A3:NM_001256213:exon17:c.G2434T:p.D812Y,ATP1A3:NM_001256214:exon17:c.G2440T:p.D814Y,ATP1A3:NM_152296:exon17:c.G2401T:p.D801Y | 19q13.2 | . | rs80356537 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.38 | H | -3.95 | D | -6.21 | D | 0.988 | 7.412 | 34 | 0.995 | 0.966 | D | 1.084 | D | 0.962 | D | 0.706 | 0 | 3.82 | 0.868 | 0.850 | 0.997 | 0.997 | 13.626 | Deleterious |
| 1836 | 19 | 43511454 | G | A | Pathogenic/Likely pathogenic | ETHE1 | . | . | . | . | . | . | . | . | . | . | 19 | 43511454 | 43511454 | G | A | exonic | ETHE1 | . | nonsynonymous SNV | ETHE1:NM_014297:exon4:c.G488T:p.R163L | 19q13.31 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.095 | H | -3.98 | D | -6.76 | D | 0.983 | 8.089 | 35 | 0.998 | 0.967 | D | 1.084 | D | 0.962 | D | 0.706 | 0 | 5.04 | 0.598 | 0.920 | 0.990 | 0.982 | 16.347 | Deleterious |
| 1837 | 19 | 46756276 | C | A | Pathogenic | FKRP | . | . | . | . | . | . | . | . | . | . | 19 | 46756276 | 46756276 | C | A | exonic | FKRP | . | nonsynonymous SNV | FKRP:NM_001039885:exon4:c.C826A:p.L276I,FKRP:NM_024301:exon4:c.C826A:p.L276I | 19q13.32 | 0.0005 | rs28937900 | 0.065 | T | 0.851 | P | 0.3 | B | 0.000 | D | 0.999 | A | 1.245 | L | -5.99 | D | -0.85 | N | 0.716 | 3.116 | 22.6 | 0.969 | 0.965 | D | 1.188 | D | 0.932 | D | 0.696 | 0 | 4.16 | 0.871 | 0.739 | 0.948 | 0.993 | 15.372 | Deleterious |
| 1838 | 19 | 46756837 | A | G | Pathogenic | FKRP | . | . | . | . | . | . | . | . | . | . | 19 | 46756837 | 46756837 | A | G | exonic | FKRP | . | nonsynonymous SNV | FKRP:NM_001039885:exon4:c.A1387G:p.N463D,FKRP:NM_024301:exon4:c.A1387G:p.N463D | 19q13.32 | . | rs121908110 | 0.0 | D | 0.999 | D | 0.991 | D | 0.000 | D | 1 | A | 2.11 | M | -6.27 | D | -4.31 | D | 0.368 | 5.428 | 26.1 | 0.997 | 0.955 | D | 1.060 | D | 0.981 | D | 0.660 | 0 | 5.44 | 1.062 | 1.140 | 0.999 | 0.973 | 14.473 | Deleterious |
| 1839 | 19 | 50323685 | G | A | Pathogenic | KCNC3 | . | . | . | . | . | . | . | . | . | . | 19 | 50323685 | 50323685 | G | A | exonic | KCNC3 | . | nonsynonymous SNV | KCNC3:NM_004977:exon2:c.G1268T:p.R423L | 19q13.33 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.004 | U | 1 | D | 2.89 | M | -5.06 | D | -6.23 | D | 0.797 | 6.947 | 33 | 0.998 | 0.971 | D | 1.083 | D | 0.968 | D | 0.706 | 0 | 3.04 | 0.787 | 0.737 | 0.988 | 0.935 | 13.319 | Deleterious |
| 1840 | 19 | 55151856 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55151856 | 55151856 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | rs727504275 | 0.001 | D | 0.999 | D | 0.993 | D | 0.000 | D | 0.999 | D | 2.65 | M | -4.73 | D | -5.87 | D | 0.767 | 7.893 | 35 | 0.999 | 0.976 | D | 1.103 | D | 0.963 | D | 0.732 | 0 | 4.63 | 0.871 | 0.011 | 0.998 | 0.998 | 16.675 | Deleterious |
| 1841 | 19 | 55151892 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55151892 | 55151892 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | rs104894729 | 0.001 | D | 0.999 | D | 0.993 | D | 0.000 | D | 1.000 | D | 2.695 | M | -4.6 | D | -6.49 | D | 0.741 | 7.783 | 35 | 0.998 | 0.977 | D | 1.103 | D | 0.956 | D | 0.732 | 0 | 4.46 | 0.871 | 0.884 | 0.995 | 1.000 | 16.238 | Deleterious |
| 1842 | 19 | 55151910 | G | A | Pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55151910 | 55151910 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.25 | T | 0.317 | B | 0.059 | B | 0.000 | D | 0.996 | D | 0.46 | N | -3.52 | D | -2.31 | N | 0.371 | 3.834 | 23.4 | 0.992 | 0.882 | D | 0.255 | D | 0.646 | D | 0.745 | 0 | 4.46 | 0.871 | 0.888 | 1.000 | 0.757 | 16.238 | Deleterious |
| 1843 | 19 | 55154035 | G | A | Pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154035 | 55154035 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | . | . | . | . | . | . | 0.041 | N | 1 | D | . | . | . | . | . | . | . | 14.139 | 44 | 0.997 | 0.943 | D | . | . | . | . | 0.706 | 0 | 4.72 | 0.871 | 0.887 | 0.995 | 0.992 | 16.802 | Deleterious (FATHMM) |
| 1844 | 19 | 55154070 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154070 | 55154070 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.001 | D | 0.984 | D | 0.849 | P | 0.000 | D | 1.000 | D | 3.3 | M | -4.5 | D | -6.4 | D | 0.828 | 7.682 | 35 | 0.999 | 0.883 | D | 1.102 | D | 0.959 | D | 0.706 | 0 | 4.72 | 0.871 | 0.887 | 0.994 | 0.998 | 16.802 | Deleterious |
| 1845 | 19 | 55154071 | C | T | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154071 | 55154071 | C | T | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1846 | 19 | 55154094 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154094 | 55154094 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.001 | D | 0.456 | P | 0.129 | B | 0.001 | N | 0.996 | D | 0.695 | N | -2.96 | D | -3.94 | D | 0.331 | 5.847 | 27.3 | 0.998 | 0.870 | D | 0.026 | D | 0.536 | D | 0.706 | 0 | 4.72 | 0.871 | 0.887 | 0.997 | 0.995 | 7.681 | Deleterious |
| 1847 | 19 | 55154109 | C | T | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154109 | 55154109 | C | T | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.001 | D | 0.074 | B | 0.047 | B | 0.000 | N | 1.000 | D | 3.1 | M | -3.16 | D | -4.53 | D | 0.29 | 6.461 | 29.9 | 0.996 | 0.977 | D | 0.615 | D | 0.807 | D | 0.706 | 0 | 3.63 | 0.917 | 0.993 | 0.990 | 0.994 | 13.040 | Deleterious |
| 1848 | 19 | 55154145 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154145 | 55154145 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.001 | D | 0.955 | P | 0.678 | P | 0.000 | D | 0.999 | D | 2.485 | M | -3.61 | D | -5.67 | D | 0.61 | 7.375 | 34 | 0.998 | 0.853 | D | 0.955 | D | 0.870 | D | 0.706 | 0 | 4.72 | 0.871 | 0.887 | 0.992 | 0.944 | 16.802 | Deleterious |
| 1849 | 19 | 55154146 | C | T | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154146 | 55154146 | C | T | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1850 | 19 | 55154157 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154157 | 55154157 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.001 | D | 0.909 | P | 0.649 | P | 0.002 | N | 0.968 | D | 2.675 | M | -3.47 | D | -5.67 | D | 0.717 | 7.376 | 34 | 0.998 | 0.520 | D | 0.901 | D | 0.853 | D | 0.706 | 0 | 4.72 | 0.871 | 0.887 | 1.000 | 0.995 | 10.523 | Deleterious |
| 1851 | 19 | 55154172 | G | A | Pathogenic/Likely pathogenic | TNNI3 | . | . | . | . | . | . | . | . | . | . | 19 | 55154172 | 55154172 | G | A | exonic | TNNI3 | . | unknown | UNKNOWN | 19q13.42 | . | . | 0.007 | D | 0.955 | P | 0.75 | P | 0.000 | D | 0.995 | D | 2.635 | M | -3.78 | D | -4.77 | D | 0.777 | 7.153 | 34 | 0.997 | 0.556 | D | 1.019 | D | 0.902 | D | 0.706 | 0 | 4.72 | 0.871 | 0.887 | 0.980 | 0.846 | 16.802 | Deleterious |
| 1852 | 20 | 3918695 | G | A | Pathogenic | PANK2 | . | . | . | . | . | . | . | . | . | . | 20 | 3918695 | 3918695 | G | A | exonic | PANK2 | . | nonsynonymous SNV | PANK2:NM_024960:exon6:c.G688A:p.G230R,PANK2:NM_153638:exon6:c.G1561A:p.G521R,PANK2:NM_153640:exon6:c.G688A:p.G230R | 20p13 | 0.0002 | rs137852959 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.65 | H | -8.82 | D | -7.8 | D | 0.995 | 6.931 | 33 | 0.999 | 0.992 | D | 0.910 | D | 0.998 | D | 0.707 | 0 | 5.12 | 0.917 | 1.048 | 1.000 | 0.998 | 16.099 | Deleterious |
| 1853 | 20 | 10656450 | C | T | Pathogenic | JAG1 | . | . | . | . | . | . | . | . | . | . | 20 | 10656450 | 10656450 | C | T | exonic | JAG1 | . | synonymous SNV | JAG1:NM_000214:exon5:c.C703A:p.R235R | 20p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1854 | 20 | 18510875 | C | T | Pathogenic | SEC23B | . | . | . | . | . | . | . | . | . | . | 20 | 18510875 | 18510875 | C | T | exonic | SEC23B | . | nonsynonymous SNV | SEC23B:NM_001172745:exon2:c.C40T:p.R14W,SEC23B:NM_001172746:exon2:c.C40T:p.R14W,SEC23B:NM_006363:exon2:c.C40T:p.R14W,SEC23B:NM_032985:exon2:c.C40T:p.R14W,SEC23B:NM_032986:exon2:c.C40T:p.R14W | 20p11.23 | 0.0002 | rs121918222 | 0.055 | T | 0.999 | D | 0.899 | P | 0.000 | D | 1 | A | 2.57 | M | -1.68 | D | -5.36 | D | 0.845 | 7.293 | 34 | 0.999 | 0.937 | D | 0.625 | D | 0.681 | D | 0.707 | 0 | 4.12 | 0.871 | 0.935 | 1.000 | 0.998 | 13.957 | Deleterious |
| 1855 | 20 | 44406195 | C | T | Pathogenic | HNF4A | . | . | . | . | . | . | . | . | . | . | 20 | 44406195 | 44406195 | C | T | exonic | HNF4A | . | nonsynonymous SNV | HNF4A:NM_000457:exon2:c.C253T:p.R85W,HNF4A:NM_001030003:exon2:c.C187T:p.R63W,HNF4A:NM_001030004:exon2:c.C187T:p.R63W,HNF4A:NM_175914:exon2:c.C187T:p.R63W,HNF4A:NM_178849:exon2:c.C253T:p.R85W,HNF4A:NM_178850:exon2:c.C253T:p.R85W,HNF4A:NM_001258355:exon3:c.C232T:p.R78W,HNF4A:NM_001287182:exon3:c.C178T:p.R60W,HNF4A:NM_001287183:exon3:c.C178T:p.R60W,HNF4A:NM_001287184:exon3:c.C178T:p.R60W | 20q13.12 | . | rs587777732 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.5 | H | -4.62 | D | -6.89 | D | 0.981 | 7.314 | 34 | 0.999 | 0.816 | D | 1.054 | D | 0.974 | D | 0.497 | 0 | 4.21 | -0.025 | -0.036 | 0.998 | 0.999 | 12.164 | Deleterious |
| 1856 | 20 | 63413556 | C | T | Pathogenic | KCNQ2 | . | . | . | . | . | . | . | . | . | . | 20 | 63413556 | 63413556 | C | T | exonic | KCNQ2 | . | synonymous SNV | KCNQ2:NM_004518:exon13:c.C1573A:p.R525R,KCNQ2:NM_172106:exon14:c.C1603A:p.R535R,KCNQ2:NM_172108:exon14:c.C1564A:p.R522R,KCNQ2:NM_172107:exon15:c.C1657A:p.R553R | 20q13.33 | . | rs759584387 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1857 | 20 | 63415086 | C | T | Pathogenic | KCNQ2 | . | . | . | . | . | . | . | . | . | . | 20 | 63415086 | 63415086 | C | T | exonic | KCNQ2 | . | synonymous SNV | KCNQ2:NM_004518:exon11:c.C1258A:p.R420R,KCNQ2:NM_172106:exon12:c.C1288A:p.R430R,KCNQ2:NM_172108:exon12:c.C1252A:p.R418R,KCNQ2:NM_172107:exon13:c.C1342A:p.R448R | 20q13.33 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1858 | 20 | 63439644 | C | T | Pathogenic | KCNQ2 | . | . | . | . | . | . | . | . | . | . | 20 | 63439644 | 63439644 | C | T | exonic | KCNQ2 | . | nonsynonymous SNV | KCNQ2:NM_004518:exon6:c.C881A:p.A294E,KCNQ2:NM_172106:exon6:c.C881A:p.A294E,KCNQ2:NM_172107:exon6:c.C881A:p.A294E,KCNQ2:NM_172108:exon6:c.C881A:p.A294E,KCNQ2:NM_172109:exon6:c.C881A:p.A294E | 20q13.33 | . | . | 0.0 | D | 0.999 | D | 0.994 | D | 0.000 | D | 1.000 | D | 3.415 | M | -5.03 | D | -3.36 | D | 0.836 | 5.196 | 25.5 | 0.995 | 0.913 | D | 1.070 | D | 0.976 | D | 0.696 | 0 | 4.01 | 0.917 | 0.935 | 0.159 | 0.451 | 16.480 | Deleterious |
| 1859 | 20 | 63442429 | G | A | Pathogenic/Likely pathogenic | KCNQ2 | . | . | . | . | . | . | . | . | . | . | 20 | 63442429 | 63442429 | G | A | exonic | KCNQ2 | . | nonsynonymous SNV | KCNQ2:NM_004518:exon5:c.G793T:p.A265S,KCNQ2:NM_172106:exon5:c.G793T:p.A265S,KCNQ2:NM_172107:exon5:c.G793T:p.A265S,KCNQ2:NM_172108:exon5:c.G793T:p.A265S,KCNQ2:NM_172109:exon5:c.G793T:p.A265S | 20q13.33 | . | . | 0.0 | D | 0.743 | P | 0.557 | P | 0.015 | N | 1 | D | 1.47 | L | -4.37 | D | -2.68 | D | 0.698 | 5.895 | 27.4 | 0.996 | 0.941 | D | 0.960 | D | 0.877 | D | 0.713 | 0 | 3.38 | 0.871 | 0.921 | 0.992 | 0.245 | 15.174 | Deleterious |
| 1860 | 20 | 63444711 | G | A | Pathogenic/Likely pathogenic | KCNQ2 | . | . | . | . | . | . | . | . | . | . | 20 | 63444711 | 63444711 | G | A | exonic | KCNQ2 | . | nonsynonymous SNV | KCNQ2:NM_004518:exon4:c.G638T:p.R213L,KCNQ2:NM_172106:exon4:c.G638T:p.R213L,KCNQ2:NM_172107:exon4:c.G638T:p.R213L,KCNQ2:NM_172108:exon4:c.G638T:p.R213L,KCNQ2:NM_172109:exon4:c.G638T:p.R213L | 20q13.33 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.003 | N | 1 | D | 3.21 | M | -5.18 | D | -6.23 | D | 0.911 | 7.010 | 33 | 0.999 | 0.965 | D | 1.078 | D | 0.975 | D | 0.696 | 0 | 4.05 | 0.871 | 0.792 | 0.978 | 0.671 | 16.577 | Deleterious |
| 1861 | 20 | 63444748 | C | T | Pathogenic | KCNQ2 | . | . | . | . | . | . | . | . | . | . | 20 | 63444748 | 63444748 | C | T | exonic | KCNQ2 | . | nonsynonymous SNV | KCNQ2:NM_004518:exon4:c.C601A:p.R201S,KCNQ2:NM_172106:exon4:c.C601A:p.R201S,KCNQ2:NM_172107:exon4:c.C601A:p.R201S,KCNQ2:NM_172108:exon4:c.C601A:p.R201S,KCNQ2:NM_172109:exon4:c.C601A:p.R201S | 20q13.33 | . | . | 0.001 | D | 1.0 | D | 0.996 | D | 0.001 | N | 1.000 | D | 2.725 | M | -5.32 | D | -4.32 | D | 0.974 | 6.339 | 29.3 | 0.998 | 0.810 | D | 1.020 | D | 0.984 | D | 0.696 | 0 | 2.84 | -0.045 | 0.885 | 0.880 | 0.996 | 12.583 | Deleterious |
| 1862 | 21 | 31667359 | T | C | Pathogenic | SOD1 | . | . | . | . | . | . | . | . | . | . | 21 | 31667359 | 31667359 | T | C | exonic | SOD1 | . | nonsynonymous SNV | SOD1:NM_000454:exon4:c.T341C:p.I114T | 21q22.11 | . | rs121912441 | 0.004 | D | 0.999 | D | 0.993 | D | 0.000 | D | 1 | D | 3.57 | H | -6.47 | D | -4.73 | D | 0.952 | 5.512 | 26.3 | 0.998 | 0.967 | D | 0.972 | D | 0.991 | D | 0.722 | 0 | 4.73 | 0.970 | 1.061 | 0.998 | 1.000 | 14.658 | Deleterious |
| 1863 | 21 | 34370639 | T | C | Pathogenic/Likely pathogenic, not provided | KCNE2 | . | . | . | . | . | . | . | . | . | . | 21 | 34370639 | 34370639 | T | C | exonic | KCNE2 | . | nonsynonymous SNV | KCNE2:NM_172201:exon2:c.T161C:p.M54T | 21q22.11 | 0.0002 | rs74315447 | 0.005 | D | 0.959 | D | 0.551 | P | 0.000 | D | 0.993 | A | 1.5 | L | -2.98 | D | -3.28 | D | 0.909 | 4.817 | 24.8 | 0.989 | 0.897 | D | 0.601 | D | 0.726 | D | 0.549 | 0 | 5.66 | 0.991 | 1.061 | 1.000 | 1.000 | 15.564 | Deleterious |
| 1864 | 21 | 34449409 | G | A | Pathogenic/Likely pathogenic, not provided | KCNE1 | . | . | . | . | . | . | . | . | . | . | 21 | 34449409 | 34449409 | G | A | exonic | KCNE1 | . | nonsynonymous SNV | KCNE1:NM_001127670:exon2:c.G226T:p.D76Y,KCNE1:NM_001270404:exon2:c.G226T:p.D76Y,KCNE1:NM_001127668:exon3:c.G226T:p.D76Y,KCNE1:NM_001127669:exon3:c.G226T:p.D76Y,KCNE1:NM_001270402:exon3:c.G226T:p.D76Y,KCNE1:NM_001270403:exon3:c.G226T:p.D76Y,KCNE1:NM_001270405:exon3:c.G226T:p.D76Y,KCNE1:NM_000219:exon4:c.G226T:p.D76Y | 21q22.12 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 0.997 | D | 2.815 | M | -3.66 | D | -7.02 | D | 0.943 | 5.440 | 26.1 | 0.990 | 0.959 | D | 1.022 | D | 0.911 | D | 0.554 | 0 | 5.16 | 0.871 | 0.807 | 0.975 | 0.096 | 13.035 | Deleterious |
| 1865 | 21 | 37486563 | C | T | Pathogenic | DYRK1A | . | . | . | . | . | . | . | . | . | . | 21 | 37486563 | 37486563 | C | T | exonic | DYRK1A | . | stopgain | DYRK1A:NM_001396:exon5:c.C613T:p.R205X,DYRK1A:NM_130436:exon5:c.C586T:p.R196X,DYRK1A:NM_130438:exon5:c.C613T:p.R205X,DYRK1A:NM_101395:exon7:c.C613T:p.R205X | 21q22.13 | . | rs724159949 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.056 | 41 | 0.998 | 0.967 | D | . | . | . | . | 0.732 | 0 | 5.54 | 0.871 | 0.892 | 1.000 | 0.998 | 16.133 | Deleterious (FATHMM) |
| 1866 | 21 | 37490393 | C | T | Pathogenic/Likely pathogenic | DYRK1A | . | . | . | . | . | . | . | . | . | . | 21 | 37490393 | 37490393 | C | T | exonic | DYRK1A | . | nonsynonymous SNV | DYRK1A:NM_001396:exon6:c.C883T:p.L295F,DYRK1A:NM_130436:exon6:c.C856T:p.L286F,DYRK1A:NM_130438:exon6:c.C883T:p.L295F,DYRK1A:NM_101395:exon8:c.C883T:p.L295F | 21q22.13 | . | rs797044526 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.035 | M | -0.48 | T | -3.71 | D | 0.949 | 6.432 | 29.8 | 0.999 | 0.945 | D | 0.062 | D | 0.542 | D | 0.707 | 0 | 5.91 | 0.871 | 0.883 | 1.000 | 0.998 | 20.299 | Deleterious |
| 1867 | 21 | 37505442 | C | T | Pathogenic | DYRK1A | . | . | . | . | . | . | . | . | . | . | 21 | 37505442 | 37505442 | C | T | exonic | DYRK1A | . | stopgain | DYRK1A:NM_001396:exon9:c.C1399T:p.R467X,DYRK1A:NM_130436:exon9:c.C1372T:p.R458X,DYRK1A:NM_130438:exon9:c.C1399T:p.R467X,DYRK1A:NM_101395:exon11:c.C1399T:p.R467X | 21q22.13 | . | rs797044520 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.345 | 41 | 0.998 | 0.972 | D | . | . | . | . | 0.707 | 0 | 4.87 | -0.058 | 0.935 | 0.998 | 0.998 | 15.731 | Deleterious (FATHMM) |
| 1868 | 21 | 42388436 | C | A | Pathogenic/Likely pathogenic | TMPRSS3 | . | . | . | . | . | . | . | . | . | . | 21 | 42388436 | 42388436 | C | A | exonic | TMPRSS3 | . | nonsynonymous SNV | TMPRSS3:NM_032404:exon2:c.C32T:p.A11V,TMPRSS3:NM_001256317:exon5:c.C413T:p.A138V,TMPRSS3:NM_024022:exon5:c.C413T:p.A138V,TMPRSS3:NM_032405:exon5:c.C413T:p.A138V | 21q22.3 | . | . | 0.044 | D | 0.958 | D | 0.72 | P | 0.005 | N | 0.980 | D | 2.6 | M | -0.89 | T | -2.91 | D | 0.252 | 5.734 | 26.9 | 0.999 | 0.873 | D | 0.038 | D | 0.484 | T | 0.757 | 0 | 4.03 | -0.044 | 0.998 | 0.063 | 0.497 | 11.920 | Tolerated |
| 1869 | 21 | 42388524 | C | T | Pathogenic/Likely pathogenic | TMPRSS3 | . | . | . | . | . | . | . | . | . | . | 21 | 42388524 | 42388524 | C | T | exonic | TMPRSS3 | . | synonymous SNV | TMPRSS3:NM_001256317:exon5:c.C325A:p.R109R,TMPRSS3:NM_024022:exon5:c.C325A:p.R109R,TMPRSS3:NM_032405:exon5:c.C325A:p.R109R | 21q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1870 | 21 | 43058862 | G | A | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43058862 | 43058862 | G | A | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon14:c.G1330T:p.D444Y,CBS:NM_001178008:exon14:c.G1330T:p.D444Y,CBS:NM_001178009:exon14:c.G1330T:p.D444Y | 21q22.3 | . | . | 0.001 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.605 | H | -3.25 | D | -7.17 | D | 0.945 | 7.464 | 34 | 0.995 | 0.933 | D | 0.492 | D | 0.604 | D | 0.672 | 0 | 4.71 | 0.871 | 0.867 | 0.994 | 0.977 | 17.349 | Deleterious |
| 1871 | 21 | 43058970 | A | C | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43058970 | 43058970 | A | C | splicing | CBS | NM_000071:exon14:c.1224-2T>G,NM_001178008:exon14:c.1224-2T>G,NM_001178009:exon14:c.1224-2T>G | . | . | 21q22.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.642 | 24.5 | 0.992 | 0.965 | D | . | . | . | . | 0.257 | 0 | 4.51 | 0.991 | 0.982 | 0.963 | 0.980 | 13.568 | Deleterious (FATHMM) |
| 1872 | 21 | 43060528 | C | T | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43060528 | 43060528 | C | T | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon12:c.C1058A:p.T353K,CBS:NM_001178008:exon12:c.C1058A:p.T353K,CBS:NM_001178009:exon12:c.C1058A:p.T353K | 21q22.3 | . | . | 0.002 | D | 0.07 | B | 0.062 | B | 0.004 | N | 0.971 | N | 2.08 | M | -5.58 | D | -1.12 | N | 0.651 | 3.282 | 22.8 | 0.943 | 0.915 | D | 0.893 | D | 0.935 | D | 0.646 | 0 | 3.2 | 0.917 | 0.824 | 0.002 | 0.002 | 9.789 | Deleterious |
| 1873 | 21 | 43062311 | G | A | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43062311 | 43062311 | G | A | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon11:c.G1039T:p.G347C,CBS:NM_001178008:exon11:c.G1039T:p.G347C,CBS:NM_001178009:exon11:c.G1039T:p.G347C | 21q22.3 | . | rs771298943 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.745 | H | -4.35 | D | -8.74 | D | 0.988 | 7.224 | 34 | 0.998 | 0.965 | D | 1.056 | D | 0.975 | D | 0.707 | 0 | 5.28 | 0.871 | 0.870 | 0.316 | 0.662 | 16.724 | Deleterious |
| 1874 | 21 | 43062344 | C | T | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43062344 | 43062344 | C | T | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon11:c.C1006A:p.R336S,CBS:NM_001178008:exon11:c.C1006A:p.R336S,CBS:NM_001178009:exon11:c.C1006A:p.R336S | 21q22.3 | . | . | 0.001 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 3.55 | H | -4.33 | D | -5.89 | D | 0.954 | 6.329 | 29.3 | 0.997 | 0.975 | D | 1.100 | D | 0.962 | D | 0.707 | 0 | 5.28 | 0.917 | 0.974 | 0.949 | 0.981 | 16.724 | Deleterious |
| 1875 | 21 | 43062381 | G | A | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43062381 | 43062381 | G | A | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon11:c.G969T:p.W323C,CBS:NM_001178008:exon11:c.G969T:p.W323C,CBS:NM_001178009:exon11:c.G969T:p.W323C | 21q22.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.555 | M | -5.52 | D | -11.92 | D | 0.952 | 6.655 | 32 | 0.994 | 0.965 | D | 1.092 | D | 0.973 | D | 0.706 | 0 | 5.04 | 0.871 | 0.870 | 0.999 | 0.995 | 16.198 | Deleterious |
| 1876 | 21 | 43062988 | G | A | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43062988 | 43062988 | G | A | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon10:c.G919T:p.G307C,CBS:NM_001178008:exon10:c.G919T:p.G307C,CBS:NM_001178009:exon10:c.G919T:p.G307C | 21q22.3 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.595 | H | -5.87 | D | -8.56 | D | 0.976 | 7.110 | 34 | 0.998 | 0.944 | D | 0.946 | D | 0.991 | D | 0.707 | 0 | 4.67 | 0.871 | 0.739 | 0.994 | 0.980 | 15.369 | Deleterious |
| 1877 | 21 | 43063074 | T | C | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43063074 | 43063074 | T | C | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon10:c.T833G:p.I278S,CBS:NM_001178008:exon10:c.T833G:p.I278S,CBS:NM_001178009:exon10:c.T833G:p.I278S | 21q22.3 | . | . | 0.0 | D | 0.99 | D | 0.964 | D | 0.000 | D | 0.974 | D | 3.71 | H | -4.57 | D | -5.34 | D | 0.961 | 4.478 | 24.2 | 0.990 | 0.945 | D | 1.079 | D | 0.960 | D | 0.706 | 0 | 3.52 | 1.062 | 0.939 | 0.927 | 0.821 | 8.498 | Deleterious |
| 1878 | 21 | 43063943 | C | T | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43063943 | 43063943 | C | T | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon9:c.C785A:p.T262K,CBS:NM_001178008:exon9:c.C785A:p.T262K,CBS:NM_001178009:exon9:c.C785A:p.T262K | 21q22.3 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.605 | H | -4.19 | D | -4.79 | D | 0.859 | 7.189 | 34 | 0.995 | 0.975 | D | 1.103 | D | 0.954 | D | 0.722 | 0 | 4.95 | 0.917 | 0.824 | 0.981 | 0.982 | 15.997 | Deleterious |
| 1879 | 21 | 43063958 | C | T | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43063958 | 43063958 | C | T | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon9:c.C770A:p.T257K,CBS:NM_001178008:exon9:c.C770A:p.T257K,CBS:NM_001178009:exon9:c.C770A:p.T257K | 21q22.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 4.68 | H | -5.81 | D | -6.0 | D | 0.751 | 5.860 | 27.3 | 0.990 | 0.966 | D | 0.987 | D | 0.989 | D | 0.722 | 0 | 4.06 | 0.917 | 0.824 | 0.996 | 0.929 | 12.621 | Deleterious |
| 1880 | 21 | 43066264 | G | A | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43066264 | 43066264 | G | A | exonic | CBS | . | stopgain | CBS:NM_000071:exon5:c.G430T:p.E144X,CBS:NM_001178008:exon5:c.G430T:p.E144X,CBS:NM_001178009:exon5:c.G430T:p.E144X | 21q22.3 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.597 | 36 | 0.994 | 0.879 | D | . | . | . | . | 0.707 | 0 | 4.33 | 0.871 | 0.785 | 0.945 | 0.178 | 13.829 | Deleterious (FATHMM) |
| 1881 | 21 | 43066332 | G | A | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43066332 | 43066332 | G | A | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon5:c.G362T:p.R121L,CBS:NM_001178008:exon5:c.G362T:p.R121L,CBS:NM_001178009:exon5:c.G362T:p.R121L | 21q22.3 | . | rs770095972 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 4.745 | H | -5.11 | D | -6.96 | D | 0.995 | 7.320 | 34 | 0.998 | 0.896 | D | 1.016 | D | 0.984 | D | 0.707 | 0 | 4.38 | 0.871 | 0.785 | 0.996 | 0.999 | 11.816 | Deleterious |
| 1882 | 21 | 43066369 | T | C | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43066369 | 43066369 | T | C | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon5:c.T325G:p.C109G,CBS:NM_001178008:exon5:c.T325G:p.C109G,CBS:NM_001178009:exon5:c.T325G:p.C109G | 21q22.3 | . | . | 0.0 | D | 0.999 | D | 0.997 | D | 0.000 | D | 1 | D | 3.11 | M | -4.17 | D | -11.82 | D | 0.951 | 5.325 | 25.8 | 0.983 | 0.932 | D | 1.091 | D | 0.944 | D | 0.707 | 0 | 5.36 | 1.062 | 0.999 | 1.000 | 0.999 | 13.598 | Deleterious |
| 1883 | 21 | 43068519 | G | C | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43068519 | 43068519 | G | C | exonic | CBS | . | synonymous SNV | CBS:NM_000071:exon4:c.G306G:p.K102K,CBS:NM_001178008:exon4:c.G306G:p.K102K,CBS:NM_001178009:exon4:c.G306G:p.K102K | 21q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1884 | 21 | 43068592 | C | G | Pathogenic/Likely pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43068592 | 43068592 | C | G | exonic | CBS | . | synonymous SNV | CBS:NM_000071:exon4:c.C233C:p.P78P,CBS:NM_001178008:exon4:c.C233C:p.P78P,CBS:NM_001178009:exon4:c.C233C:p.P78P | 21q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1885 | 21 | 43072048 | C | T | Pathogenic | CBS | . | . | . | . | . | . | . | . | . | . | 21 | 43072048 | 43072048 | C | T | exonic | CBS | . | nonsynonymous SNV | CBS:NM_000071:exon3:c.C146A:p.P49Q,CBS:NM_001178008:exon3:c.C146A:p.P49Q,CBS:NM_001178009:exon3:c.C146A:p.P49Q | 21q22.3 | . | . | 0.04 | D | 0.674 | P | 0.383 | B | 0.000 | D | 1.000 | D | 2.56 | M | -4.45 | D | -5.48 | D | 0.778 | 6.097 | 28.2 | 0.991 | 0.950 | D | 1.122 | D | 0.967 | D | 0.722 | 0 | 5.64 | 0.917 | 0.877 | 0.791 | 0.686 | 17.497 | Deleterious |
| 1886 | 21 | 43774297 | C | T | Pathogenic | CSTB | . | . | . | . | . | . | . | . | . | . | 21 | 43774297 | 43774297 | C | T | exonic | CSTB | . | synonymous SNV | CSTB:NM_000100:exon3:c.C202A:p.R68R | 21q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1887 | 21 | 43774760 | G | C | Pathogenic | CSTB | . | . | . | . | . | . | . | . | . | . | 21 | 43774760 | 43774760 | G | C | splicing | CSTB | NM_000100:exon2:c.67-1C>G | . | . | 21q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1888 | 21 | 44287085 | C | T | Pathogenic | AIRE | . | . | . | . | . | . | . | . | . | . | 21 | 44287085 | 44287085 | C | T | exonic | AIRE | . | stopgain | AIRE:NM_000383:exon3:c.C415T:p.R139X | 21q22.3 | . | rs121434256 | . | . | . | . | . | . | 0.217 | N | 1 | A | . | . | . | . | . | . | . | 7.169 | 34 | 0.994 | 0.076 | N | . | . | . | . | 0.598 | 0 | 0.183 | -0.048 | -0.004 | 0.015 | 0.003 | 5.907 | Deleterious (DANN) |
| 1889 | 21 | 44289773 | C | T | Pathogenic | AIRE | . | . | . | . | . | . | . | . | . | . | 21 | 44289773 | 44289773 | C | T | exonic | AIRE | . | stopgain | AIRE:NM_000383:exon6:c.C769T:p.R257X | 21q22.3 | 7.7e-05 | rs121434254 | . | . | . | . | . | . | 0.130 | N | 1 | A | . | . | . | . | . | . | . | 9.432 | 35 | 0.997 | 0.619 | D | . | . | . | . | 0.581 | 0 | 2.25 | 0.033 | 0.881 | 0.035 | 0.848 | 5.466 | Deleterious (FATHMM) |
| 1890 | 21 | 45989129 | G | A | Pathogenic | COL6A1 | . | . | . | . | . | . | . | . | . | . | 21 | 45989129 | 45989129 | G | A | exonic | COL6A1 | . | nonsynonymous SNV | COL6A1:NM_001848:exon9:c.G850A:p.G284R | 21q22.3 | . | rs121912938 | 0.0 | D | 1.0 | D | 0.99 | D | 0.001 | U | 1 | A | 3.4 | M | -6.29 | D | -6.65 | D | 0.986 | 5.199 | 25.5 | 0.999 | 0.992 | D | 0.986 | D | 0.988 | D | 0.696 | 0 | 3.6 | 0.917 | 0.902 | 0.971 | 0.794 | 15.389 | Deleterious |
| 1891 | 21 | 45989617 | G | A | Pathogenic | COL6A1 | . | . | . | . | . | . | . | . | . | . | 21 | 45989617 | 45989617 | G | A | exonic | COL6A1 | . | nonsynonymous SNV | COL6A1:NM_001848:exon10:c.G868A:p.G290R | 21q22.3 | . | rs121912939 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 4 | H | -6.0 | D | -5.5 | D | 0.992 | 5.483 | 26.2 | 0.999 | 0.988 | D | 0.971 | D | 0.990 | D | 0.718 | 0 | 4.58 | 0.917 | 0.998 | 0.948 | 0.899 | 17.386 | Deleterious |
| 1892 | 21 | 46116010 | G | A | Pathogenic/Likely pathogenic | COL6A2 | . | . | . | . | . | . | . | . | . | . | 21 | 46116010 | 46116010 | G | A | exonic | COL6A2 | . | nonsynonymous SNV | COL6A2:NM_001849:exon7:c.G857A:p.G286E,COL6A2:NM_058174:exon7:c.G857A:p.G286E,COL6A2:NM_058175:exon7:c.G857A:p.G286E | 21q22.3 | . | rs727502827 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 3.8 | H | -5.52 | D | -6.32 | D | 0.963 | 6.186 | 28.6 | 0.997 | 0.954 | D | 1.007 | D | 0.986 | D | 0.696 | 0 | 4.26 | 0.630 | 1.048 | 0.398 | 0.989 | 17.047 | Deleterious |
| 1893 | 21 | 46117916 | C | T | Pathogenic | COL6A2 | . | . | . | . | . | . | . | . | . | . | 21 | 46117916 | 46117916 | C | T | exonic | COL6A2 | . | stopgain | COL6A2:NM_001849:exon12:c.C1096T:p.R366X,COL6A2:NM_058174:exon12:c.C1096T:p.R366X,COL6A2:NM_058175:exon12:c.C1096T:p.R366X | 21q22.3 | . | rs387906609 | . | . | . | . | . | . | 0.983 | N | 1 | A | . | . | . | . | . | . | . | 9.402 | 35 | 0.995 | 0.959 | D | . | . | . | . | 0.696 | 0 | 3.57 | 0.871 | 0.036 | 0.928 | 0.401 | 11.990 | Deleterious (FATHMM) |
| 1894 | 21 | 46125509 | G | A | Pathogenic | COL6A2 | . | . | . | . | . | . | . | . | . | . | 21 | 46125509 | 46125509 | G | A | exonic | COL6A2 | . | nonsynonymous SNV | COL6A2:NM_001849:exon25:c.G1861A:p.D621N,COL6A2:NM_058174:exon25:c.G1861A:p.D621N,COL6A2:NM_058175:exon25:c.G1861A:p.D621N | 21q22.3 | . | rs267606750 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.76 | H | -4.64 | D | -4.32 | D | 0.407 | 7.048 | 33 | 0.999 | 0.986 | D | 1.087 | D | 0.970 | D | 0.696 | 0 | 4.07 | 0.897 | 0.986 | 1.000 | 0.998 | 16.254 | Deleterious |
| 1895 | 22 | 28695187 | C | T | Pathogenic/Likely pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28695187 | 28695187 | C | T | exonic | CHEK2 | . | nonsynonymous SNV | CHEK2:NM_145862:exon11:c.C1228A:p.Q410K,CHEK2:NM_007194:exon12:c.C1315A:p.Q439K,CHEK2:NM_001005735:exon13:c.C1444A:p.Q482K,CHEK2:NM_001257387:exon13:c.C652A:p.Q218K | 22q12.1 | . | . | 0.169 | T | 1.0 | D | 0.993 | D | 0.000 | D | 1 | D | 0.295 | N | -0.07 | T | -3.44 | D | 0.89 | 5.347 | 25.9 | 0.995 | 0.987 | D | -0.466 | T | 0.288 | T | 0.707 | 0 | 5.81 | 0.917 | 1.047 | 1.000 | 1.000 | 19.054 | Tolerated |
| 1896 | 22 | 28725242 | G | A | Pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28725242 | 28725242 | G | A | splicing | CHEK2 | NM_145862:exon3:c.444+1C>T,NM_007194:exon3:c.444+1C>T,NM_001005735:exon4:c.573+1C>T | . | . | 22q12.1 | . | rs121908698 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.206 | 22.7 | 0.954 | 0.943 | D | . | . | . | . | 0.295 | 0 | 4.86 | 0.871 | 0.892 | 0.918 | 0.984 | 14.008 | Deleterious (FATHMM) |
| 1897 | 22 | 28725242 | G | T | Pathogenic/Likely pathogenic, not provided | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28725242 | 28725242 | G | T | splicing | CHEK2 | NM_145862:exon3:c.444+1C>A,NM_007194:exon3:c.444+1C>A,NM_001005735:exon4:c.573+1C>A | . | . | 22q12.1 | . | rs121908698 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.182 | 22.7 | 0.955 | 0.919 | D | . | . | . | . | 0.295 | 0 | 4.86 | 0.871 | 0.892 | 0.918 | 0.984 | 14.008 | Deleterious (FATHMM) |
| 1898 | 22 | 28725254 | C | T | Pathogenic/Likely pathogenic, not provided | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28725254 | 28725254 | C | T | exonic | CHEK2 | . | synonymous SNV | CHEK2:NM_007194:exon3:c.C433A:p.R145R,CHEK2:NM_145862:exon3:c.C433A:p.R145R,CHEK2:NM_001005735:exon4:c.C562A:p.R188R | 22q12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1899 | 22 | 28725278 | C | T | Pathogenic/Likely pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28725278 | 28725278 | C | T | exonic | CHEK2 | . | synonymous SNV | CHEK2:NM_007194:exon3:c.C409A:p.R137R,CHEK2:NM_145862:exon3:c.C409A:p.R137R,CHEK2:NM_001005735:exon4:c.C538A:p.R180R | 22q12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1900 | 22 | 28734401 | T | A | Pathogenic/Likely pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28734401 | 28734401 | T | A | splicing | CHEK2 | NM_145862:exon2:c.319+2A>T,NM_007194:exon2:c.319+2A>T,NM_001005735:exon2:c.319+2A>T | . | . | 22q12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1901 | 22 | 28734439 | C | T | Pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28734439 | 28734439 | C | T | exonic | CHEK2 | . | synonymous SNV | CHEK2:NM_001005735:exon2:c.C283A:p.R95R,CHEK2:NM_007194:exon2:c.C283A:p.R95R,CHEK2:NM_145862:exon2:c.C283A:p.R95R | 22q12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1902 | 22 | 28734443 | G | A | Pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28734443 | 28734443 | G | A | exonic | CHEK2 | . | nonsynonymous SNV | CHEK2:NM_001005735:exon2:c.G279T:p.W93C,CHEK2:NM_007194:exon2:c.G279T:p.W93C,CHEK2:NM_145862:exon2:c.G279T:p.W93C | 22q12.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 1.905 | M | 2.32 | T | -4.44 | D | 0.92 | 6.907 | 33 | 0.993 | 0.960 | D | 0.803 | D | 0.828 | D | 0.707 | 0 | 5.42 | 0.871 | 0.836 | 0.831 | 0.996 | 18.572 | Deleterious |
| 1903 | 22 | 28734517 | C | T | Pathogenic/Likely pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28734517 | 28734517 | C | T | exonic | CHEK2 | . | nonsynonymous SNV | CHEK2:NM_001005735:exon2:c.C205A:p.Q69K,CHEK2:NM_007194:exon2:c.C205A:p.Q69K,CHEK2:NM_145862:exon2:c.C205A:p.Q69K | 22q12.1 | . | rs768384031 | 0.013 | D | 0.996 | D | 0.979 | D | 0.000 | D | 1 | D | 1.845 | L | 2.21 | T | -1.59 | N | 0.709 | 6.113 | 28.3 | 0.996 | 0.957 | D | 0.903 | D | 0.868 | D | 0.707 | 0 | 5.42 | 0.917 | 0.935 | 0.994 | 1.000 | 18.572 | Deleterious |
| 1904 | 22 | 28734571 | C | T | Pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28734571 | 28734571 | C | T | exonic | CHEK2 | . | nonsynonymous SNV | CHEK2:NM_001005735:exon2:c.C151A:p.Q51K,CHEK2:NM_007194:exon2:c.C151A:p.Q51K,CHEK2:NM_145862:exon2:c.C151A:p.Q51K | 22q12.1 | . | . | 0.555 | T | 0.996 | D | 0.979 | D | 0.003 | N | 1 | D | 1.355 | L | 2.35 | T | -0.63 | N | 0.632 | 4.241 | 23.9 | 0.993 | 0.957 | D | 0.392 | D | 0.811 | D | 0.707 | 0 | 5.42 | 0.917 | 0.935 | 0.980 | 0.957 | 18.572 | Deleterious |
| 1905 | 22 | 28734637 | C | T | Pathogenic | CHEK2 | . | . | . | . | . | . | . | . | . | . | 22 | 28734637 | 28734637 | C | T | exonic | CHEK2 | . | nonsynonymous SNV | CHEK2:NM_001005735:exon2:c.C85A:p.Q29K,CHEK2:NM_007194:exon2:c.C85A:p.Q29K,CHEK2:NM_145862:exon2:c.C85A:p.Q29K | 22q12.1 | . | . | 0.037 | D | 0.065 | B | 0.035 | B | 0.761 | N | 1 | D | 0.695 | N | 0.82 | T | -0.38 | N | 0.291 | 2.040 | 16.47 | 0.920 | 0.860 | D | -0.376 | T | 0.606 | D | 0.732 | 0 | 3.61 | 0.630 | 0.935 | 0.024 | 0.335 | 9.268 | Deleterious |
| 1906 | 22 | 38112212 | T | G | Pathogenic | PLA2G6 | . | . | . | . | . | . | . | . | . | . | 22 | 38112212 | 38112212 | T | G | exonic | PLA2G6 | . | synonymous SNV | PLA2G6:NM_001004426:exon16:c.T2208C:p.Y736Y,PLA2G6:NM_001199562:exon16:c.T2208C:p.Y736Y,PLA2G6:NM_003560:exon17:c.T2370C:p.Y790Y | 22q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1907 | 22 | 38112565 | G | C | Pathogenic | PLA2G6 | . | . | . | . | . | . | . | . | . | . | 22 | 38112565 | 38112565 | G | C | exonic | PLA2G6 | . | synonymous SNV | PLA2G6:NM_001004426:exon15:c.G2053G:p.D685D,PLA2G6:NM_001199562:exon15:c.G2053G:p.D685D,PLA2G6:NM_003560:exon16:c.G2215G:p.D739D | 22q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1908 | 22 | 38115658 | C | T | Pathogenic | PLA2G6 | . | . | . | . | . | . | . | . | . | . | 22 | 38115658 | 38115658 | C | T | exonic | PLA2G6 | . | synonymous SNV | PLA2G6:NM_001004426:exon13:c.C1741A:p.R581R,PLA2G6:NM_001199562:exon13:c.C1741A:p.R581R,PLA2G6:NM_003560:exon14:c.C1903A:p.R635R | 22q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1909 | 22 | 38129523 | G | A | Pathogenic/Likely pathogenic | PLA2G6 | . | . | . | . | . | . | . | . | . | . | 22 | 38129523 | 38129523 | G | A | exonic | PLA2G6 | . | stopgain | PLA2G6:NM_001004426:exon8:c.G1117T:p.G373X,PLA2G6:NM_001199562:exon8:c.G1117T:p.G373X,PLA2G6:NM_003560:exon8:c.G1117T:p.G373X | 22q13.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.088 | 41 | 0.993 | 0.988 | D | . | . | . | . | 0.707 | 0 | 5.34 | 0.871 | 0.935 | 0.996 | 0.988 | 19.390 | Deleterious (FATHMM) |
| 1910 | 22 | 38169318 | C | T | Pathogenic | PLA2G6 | . | . | . | . | . | . | . | . | . | . | 22 | 38169318 | 38169318 | C | T | exonic | PLA2G6 | . | synonymous SNV | PLA2G6:NM_001004426:exon2:c.C109A:p.R37R,PLA2G6:NM_001199562:exon2:c.C109A:p.R37R,PLA2G6:NM_003560:exon2:c.C109A:p.R37R | 22q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1911 | 22 | 40350018 | T | C | Pathogenic | ADSL | . | . | . | . | . | . | . | . | . | . | 22 | 40350018 | 40350018 | T | C | exonic | ADSL | . | nonsynonymous SNV | ADSL:NM_000026:exon2:c.T340C:p.Y114H,ADSL:NM_001123378:exon2:c.T340C:p.Y114H | 22q13.1 | 7.7e-05 | rs374259530 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.635 | H | -5.73 | D | -4.4 | D | 0.91 | 6.135 | 28.4 | 0.998 | 0.986 | D | 1.024 | D | 0.986 | D | 0.707 | 0 | 5.59 | 0.991 | 1.061 | 0.998 | 0.998 | 15.854 | Deleterious |
| 1912 | 22 | 40364965 | G | A | Pathogenic | ADSL | . | . | . | . | . | . | . | . | . | . | 22 | 40364965 | 40364965 | G | A | exonic | ADSL | . | nonsynonymous SNV | ADSL:NM_000026:exon12:c.G1277A:p.R426H | 22q13.1 | . | rs119450941 | . | . | 0.696 | P | 0.344 | B | 0.000 | D | 1 | A | 3.685 | H | . | . | . | . | 0.936 | 5.899 | 27.5 | 0.999 | 0.993 | D | 1.042 | D | 0.909 | D | 0.722 | 0 | 5.67 | 0.917 | 1.048 | 0.969 | 0.988 | 19.776 | Deleterious |
| 1913 | 22 | 42061052 | G | A | Pathogenic | NAGA | . | . | . | . | . | . | . | . | . | . | 22 | 42061052 | 42061052 | G | A | exonic | NAGA | . | stopgain | NAGA:NM_000262:exon8:c.G973T:p.E325X | 22q13.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.717 | 43 | 0.995 | 0.964 | D | . | . | . | . | 0.707 | 0 | 5.68 | 0.871 | 0.834 | 0.935 | 0.390 | 17.971 | Deleterious (FATHMM) |
| 1914 | 22 | 50625392 | C | T | Pathogenic | ARSA | . | . | . | . | . | . | . | . | . | . | 22 | 50625392 | 50625392 | C | T | exonic | ARSA | . | nonsynonymous SNV | ARSA:NM_000487:exon8:c.C1283A:p.P428Q,ARSA:NM_001085428:exon8:c.C1025A:p.P342Q,ARSA:NM_001085425:exon9:c.C1283A:p.P428Q,ARSA:NM_001085426:exon9:c.C1283A:p.P428Q,ARSA:NM_001085427:exon9:c.C1283A:p.P428Q | 22q13.33 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.27 | M | -4.33 | D | -6.96 | D | 0.863 | 6.607 | 32 | 0.994 | 0.993 | D | 1.087 | D | 0.942 | D | 0.745 | 0 | 5.57 | 0.917 | 0.998 | 0.874 | 0.890 | 17.048 | Deleterious |
| 1915 | 22 | 50626250 | G | A | Pathogenic/Likely pathogenic, not provided | ARSA | . | . | . | . | . | . | . | . | . | . | 22 | 50626250 | 50626250 | G | A | exonic | ARSA | . | nonsynonymous SNV | ARSA:NM_000487:exon5:c.G883T:p.G295C,ARSA:NM_001085428:exon5:c.G625T:p.G209C,ARSA:NM_001085425:exon6:c.G883T:p.G295C,ARSA:NM_001085426:exon6:c.G883T:p.G295C,ARSA:NM_001085427:exon6:c.G883T:p.G295C | 22q13.33 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.32 | M | -4.01 | D | -8.76 | D | 0.985 | 7.789 | 35 | 0.998 | 0.977 | D | 1.099 | D | 0.951 | D | 0.758 | 0 | 5.21 | 0.871 | 0.852 | 0.858 | 0.856 | 16.265 | Deleterious |
| 1916 | 22 | 50626676 | G | C | Pathogenic | ARSA | . | . | . | . | . | . | . | . | . | . | 22 | 50626676 | 50626676 | G | C | exonic | ARSA | . | synonymous SNV | ARSA:NM_000487:exon4:c.G769G:p.D257D,ARSA:NM_001085428:exon4:c.G511G:p.D171D,ARSA:NM_001085425:exon5:c.G769G:p.D257D,ARSA:NM_001085426:exon5:c.G769G:p.D257D,ARSA:NM_001085427:exon5:c.G769G:p.D257D | 22q13.33 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1917 | 22 | 50626682 | G | A | Pathogenic/Likely pathogenic | ARSA | . | . | . | . | . | . | . | . | . | . | 22 | 50626682 | 50626682 | G | A | exonic | ARSA | . | stopgain | ARSA:NM_000487:exon4:c.G763T:p.E255X,ARSA:NM_001085428:exon4:c.G505T:p.E169X,ARSA:NM_001085425:exon5:c.G763T:p.E255X,ARSA:NM_001085426:exon5:c.G763T:p.E255X,ARSA:NM_001085427:exon5:c.G763T:p.E255X | 22q13.33 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.934 | 38 | 0.998 | 0.982 | D | . | . | . | . | 0.706 | 0 | 5.25 | 0.871 | 0.935 | 1.000 | 1.000 | 16.340 | Deleterious (FATHMM) |
| 1918 | 22 | 50627165 | G | A | Pathogenic | ARSA | . | . | . | . | . | . | . | . | . | . | 22 | 50627165 | 50627165 | G | A | splicing | ARSA | NM_001085425:exon3:c.465+1C>T,NM_000487:exon2:c.465+1C>T,NM_001085428:exon2:c.207+1C>T,NM_001085427:exon3:c.465+1C>T,NM_001085426:exon3:c.465+1C>T | . | . | 22q13.33 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.140 | 23.8 | 0.993 | 0.985 | D | . | . | . | . | 0.209 | 1 | 4.74 | 0.871 | 0.922 | 0.929 | 0.620 | 15.574 | Deleterious (FATHMM) |
| 1919 | X | 18584312 | C | A | Pathogenic | CDKL5 | . | . | . | . | . | . | . | . | . | . | X | 18584312 | 18584312 | C | A | exonic | CDKL5 | . | stopgain | CDKL5:NM_003159:exon8:c.C513A:p.Y171X,CDKL5:NM_001037343:exon9:c.C513A:p.Y171X | Xp22.13 | . | rs267608490 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.801 | 36 | 0.997 | 0.849 | D | . | . | . | . | . | . | 0.476 | -0.845 | -0.293 | 0.991 | 0.995 | 9.52 | Deleterious (FATHMM) |
| 1920 | X | 18584332 | G | A | Pathogenic/Likely pathogenic | CDKL5 | . | . | . | . | . | . | . | . | . | . | X | 18584332 | 18584332 | G | A | exonic | CDKL5 | . | nonsynonymous SNV | CDKL5:NM_003159:exon8:c.G533A:p.R178Q,CDKL5:NM_001037343:exon9:c.G533A:p.R178Q | Xp22.13 | . | rs267606715 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.995 | M | 0.71 | T | -4.0 | D | 0.956 | 7.256 | 34 | 1.000 | 0.987 | D | -0.132 | T | 0.382 | T | . | . | 5.6 | 0.917 | 0.998 | 0.991 | 0.836 | 18.642 | Tolerated |
| 1921 | X | 18604599 | C | T | Pathogenic | CDKL5 | . | . | . | . | . | . | . | . | . | . | X | 18604599 | 18604599 | C | T | exonic | CDKL5 | . | stopgain | CDKL5:NM_003159:exon12:c.C1675T:p.R559X,CDKL5:NM_001037343:exon13:c.C1675T:p.R559X | Xp22.13 | . | rs267608395 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.369 | 37 | 0.998 | 0.952 | D | . | . | . | . | . | . | 3.15 | 0.871 | 0.935 | 0.995 | 0.995 | 8.787 | Deleterious (FATHMM) |
| 1922 | X | 18628470 | C | T | Pathogenic | CDKL5 | . | . | . | . | . | . | . | . | . | . | X | 18628470 | 18628470 | C | T | exonic | CDKL5 | . | stopgain | CDKL5:NM_003159:exon18:c.C2596T:p.Q866X,CDKL5:NM_001037343:exon19:c.C2596T:p.Q866X | Xp22.13 | . | rs587783158 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.171 | 45 | 0.998 | 0.972 | D | . | . | . | . | . | . | 5.66 | 0.871 | 0.935 | 0.999 | 1.000 | 18.722 | Deleterious (FATHMM) |
| 1923 | X | 21880921 | G | A | Pathogenic | MBTPS2 | . | . | . | . | . | . | . | . | . | . | X | 21880921 | 21880921 | G | A | exonic | MBTPS2 | . | nonsynonymous SNV | MBTPS2:NM_015884:exon10:c.G1286A:p.R429H | Xp22.12 | . | rs122468178 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | A | 2.885 | M | -4.27 | D | -3.97 | D | 0.977 | 7.285 | 34 | 0.999 | 0.989 | D | 1.085 | D | 0.952 | D | . | . | 5.3 | 0.917 | 1.048 | 1.000 | 1.000 | 16.634 | Deleterious |
| 1924 | X | 22219070 | G | A | Pathogenic/Likely pathogenic | PHEX|PTCHD1-AS | . | . | . | . | . | . | . | . | . | . | X | 22219070 | 22219070 | G | A | exonic | PHEX | . | nonsynonymous SNV | PHEX:NM_000444:exon17:c.G1735A:p.G579R,PHEX:NM_001282754:exon17:c.G1735A:p.G579R | Xp22.11 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.22 | H | -2.33 | D | -7.62 | D | 0.997 | 7.297 | 34 | 0.999 | 0.988 | D | 1.039 | D | 0.888 | D | . | . | 5.86 | 0.917 | 1.048 | 0.981 | 0.986 | 19.145 | Deleterious |
| 1925 | X | 31178721 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31178721 | 31178721 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004015:exon9:c.C967A:p.R323R,DMD:NM_004016:exon9:c.C967A:p.R323R,DMD:NM_004017:exon9:c.C967A:p.R323R,DMD:NM_004018:exon9:c.C967A:p.R323R,DMD:NM_004019:exon9:c.C967A:p.R323R,DMD:NM_004014:exon16:c.C1984A:p.R662R,DMD:NM_004013:exon27:c.C2791A:p.R931R,DMD:NM_004020:exon27:c.C2791A:p.R931R,DMD:NM_004021:exon27:c.C2791A:p.R931R,DMD:NM_004022:exon27:c.C2791A:p.R931R,DMD:NM_004023:exon27:c.C2791A:p.R931R,DMD:NM_004011:exon42:c.C6148A:p.R2050R,DMD:NM_004012:exon42:c.C6139A:p.R2047R,DMD:NM_000109:exon70:c.C10147A:p.R3383R,DMD:NM_004006:exon70:c.C10171A:p.R3391R,DMD:NM_004009:exon70:c.C10159A:p.R3387R,DMD:NM_004010:exon70:c.C9802A:p.R3268R | Xp21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1926 | X | 31178784 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31178784 | 31178784 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004015:exon9:c.C904A:p.R302R,DMD:NM_004016:exon9:c.C904A:p.R302R,DMD:NM_004017:exon9:c.C904A:p.R302R,DMD:NM_004018:exon9:c.C904A:p.R302R,DMD:NM_004019:exon9:c.C904A:p.R302R,DMD:NM_004014:exon16:c.C1921A:p.R641R,DMD:NM_004013:exon27:c.C2728A:p.R910R,DMD:NM_004020:exon27:c.C2728A:p.R910R,DMD:NM_004021:exon27:c.C2728A:p.R910R,DMD:NM_004022:exon27:c.C2728A:p.R910R,DMD:NM_004023:exon27:c.C2728A:p.R910R,DMD:NM_004011:exon42:c.C6085A:p.R2029R,DMD:NM_004012:exon42:c.C6076A:p.R2026R,DMD:NM_000109:exon70:c.C10084A:p.R3362R,DMD:NM_004006:exon70:c.C10108A:p.R3370R,DMD:NM_004009:exon70:c.C10096A:p.R3366R,DMD:NM_004010:exon70:c.C9739A:p.R3247R | Xp21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1927 | X | 31206663 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31206663 | 31206663 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004015:exon5:c.C364A:p.R122R,DMD:NM_004016:exon5:c.C364A:p.R122R,DMD:NM_004017:exon5:c.C364A:p.R122R,DMD:NM_004018:exon5:c.C364A:p.R122R,DMD:NM_004019:exon5:c.C364A:p.R122R,DMD:NM_004014:exon12:c.C1381A:p.R461R,DMD:NM_004013:exon23:c.C2188A:p.R730R,DMD:NM_004020:exon23:c.C2188A:p.R730R,DMD:NM_004021:exon23:c.C2188A:p.R730R,DMD:NM_004022:exon23:c.C2188A:p.R730R,DMD:NM_004023:exon23:c.C2188A:p.R730R,DMD:NM_004011:exon38:c.C5545A:p.R1849R,DMD:NM_004012:exon38:c.C5536A:p.R1846R,DMD:NM_000109:exon66:c.C9544A:p.R3182R,DMD:NM_004006:exon66:c.C9568A:p.R3190R,DMD:NM_004009:exon66:c.C9556A:p.R3186R,DMD:NM_004010:exon66:c.C9199A:p.R3067R | Xp21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1928 | X | 31223071 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31223071 | 31223071 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004015:exon3:c.C133A:p.R45R,DMD:NM_004016:exon3:c.C133A:p.R45R,DMD:NM_004017:exon3:c.C133A:p.R45R,DMD:NM_004018:exon3:c.C133A:p.R45R,DMD:NM_004019:exon3:c.C133A:p.R45R,DMD:NM_004014:exon10:c.C1150A:p.R384R,DMD:NM_004013:exon21:c.C1957A:p.R653R,DMD:NM_004020:exon21:c.C1957A:p.R653R,DMD:NM_004021:exon21:c.C1957A:p.R653R,DMD:NM_004022:exon21:c.C1957A:p.R653R,DMD:NM_004023:exon21:c.C1957A:p.R653R,DMD:NM_004011:exon36:c.C5314A:p.R1772R,DMD:NM_004012:exon36:c.C5305A:p.R1769R,DMD:NM_000109:exon64:c.C9313A:p.R3105R,DMD:NM_004006:exon64:c.C9337A:p.R3113R,DMD:NM_004009:exon64:c.C9325A:p.R3109R,DMD:NM_004010:exon64:c.C8968A:p.R2990R | Xp21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1929 | X | 31478330 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31478330 | 31478330 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004014:exon5:c.C526A:p.R176R,DMD:NM_004013:exon16:c.C1333A:p.R445R,DMD:NM_004020:exon16:c.C1333A:p.R445R,DMD:NM_004021:exon16:c.C1333A:p.R445R,DMD:NM_004022:exon16:c.C1333A:p.R445R,DMD:NM_004023:exon16:c.C1333A:p.R445R,DMD:NM_004011:exon31:c.C4690A:p.R1564R,DMD:NM_004012:exon31:c.C4681A:p.R1561R,DMD:NM_000109:exon59:c.C8689A:p.R2897R,DMD:NM_004006:exon59:c.C8713A:p.R2905R,DMD:NM_004009:exon59:c.C8701A:p.R2901R,DMD:NM_004010:exon59:c.C8344A:p.R2782R | Xp21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1930 | X | 31479043 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31479043 | 31479043 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004014:exon4:c.C421A:p.R141R,DMD:NM_004013:exon15:c.C1228A:p.R410R,DMD:NM_004020:exon15:c.C1228A:p.R410R,DMD:NM_004021:exon15:c.C1228A:p.R410R,DMD:NM_004022:exon15:c.C1228A:p.R410R,DMD:NM_004023:exon15:c.C1228A:p.R410R,DMD:NM_004011:exon30:c.C4585A:p.R1529R,DMD:NM_004012:exon30:c.C4576A:p.R1526R,DMD:NM_000109:exon58:c.C8584A:p.R2862R,DMD:NM_004006:exon58:c.C8608A:p.R2870R,DMD:NM_004009:exon58:c.C8596A:p.R2866R,DMD:NM_004010:exon58:c.C8239A:p.R2747R | Xp21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1931 | X | 31627852 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 31627852 | 31627852 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004013:exon12:c.C658A:p.R220R,DMD:NM_004020:exon12:c.C658A:p.R220R,DMD:NM_004021:exon12:c.C658A:p.R220R,DMD:NM_004022:exon12:c.C658A:p.R220R,DMD:NM_004023:exon12:c.C658A:p.R220R,DMD:NM_004011:exon27:c.C4015A:p.R1339R,DMD:NM_004012:exon27:c.C4006A:p.R1336R,DMD:NM_000109:exon55:c.C8014A:p.R2672R,DMD:NM_004006:exon55:c.C8038A:p.R2680R,DMD:NM_004009:exon55:c.C8026A:p.R2676R,DMD:NM_004010:exon55:c.C7669A:p.R2557R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1932 | X | 32216981 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32216981 | 32216981 | C | T | exonic | DMD | . | nonsynonymous SNV | DMD:NM_004011:exon16:c.C2350A:p.Q784K,DMD:NM_004012:exon16:c.C2341A:p.Q781K,DMD:NM_000109:exon44:c.C6349A:p.Q2117K,DMD:NM_004006:exon44:c.C6373A:p.Q2125K,DMD:NM_004009:exon44:c.C6361A:p.Q2121K,DMD:NM_004010:exon44:c.C6004A:p.Q2002K | Xp21.1 | . | . | 0.573 | T | 0.07 | B | 0.023 | B | 0.068 | U | 0.997 | N | 1.15 | L | 0.81 | T | -0.36 | N | 0.176 | 1.082 | 11.12 | 0.780 | 0.867 | D | -1.044 | T | 0.099 | T | . | . | 5.62 | 0.917 | 0.998 | 1.000 | 1.000 | 13.186 | Tolerated |
| 1933 | X | 32362826 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32362826 | 32362826 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004011:exon9:c.C1264A:p.R422R,DMD:NM_004012:exon9:c.C1255A:p.R419R,DMD:NM_000109:exon37:c.C5263A:p.R1755R,DMD:NM_004006:exon37:c.C5287A:p.R1763R,DMD:NM_004009:exon37:c.C5275A:p.R1759R,DMD:NM_004010:exon37:c.C4918A:p.R1640R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1934 | X | 32365175 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32365175 | 32365175 | C | T | exonic | DMD | . | nonsynonymous SNV | DMD:NM_004011:exon7:c.C847A:p.Q283K,DMD:NM_004012:exon7:c.C838A:p.Q280K,DMD:NM_000109:exon35:c.C4846A:p.Q1616K,DMD:NM_004006:exon35:c.C4870A:p.Q1624K,DMD:NM_004009:exon35:c.C4858A:p.Q1620K,DMD:NM_004010:exon35:c.C4501A:p.Q1501K | Xp21.1 | . | . | 0.453 | T | 0.047 | B | 0.037 | B | 0.138 | U | 0.986 | N | 0 | N | 1.43 | T | 0.18 | N | 0.298 | 2.447 | 19.13 | 0.973 | 0.984 | D | -1.066 | T | 0.071 | T | . | . | 4.84 | -0.045 | 1.048 | 0.853 | 1.000 | 14.666 | Tolerated |
| 1935 | X | 32380626 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32380626 | 32380626 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_004011:exon6:c.C706A:p.R236R,DMD:NM_004012:exon6:c.C697A:p.R233R,DMD:NM_000109:exon34:c.C4705A:p.R1569R,DMD:NM_004006:exon34:c.C4729A:p.R1577R,DMD:NM_004009:exon34:c.C4717A:p.R1573R,DMD:NM_004010:exon34:c.C4360A:p.R1454R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1936 | X | 32438372 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32438372 | 32438372 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_000109:exon29:c.C3916A:p.R1306R,DMD:NM_004006:exon29:c.C3940A:p.R1314R,DMD:NM_004009:exon29:c.C3928A:p.R1310R,DMD:NM_004010:exon29:c.C3571A:p.R1191R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1937 | X | 32463438 | G | A | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32463438 | 32463438 | G | A | splicing | DMD | NM_000109:exon25:c.3408+1C>T,NM_004009:exon25:c.3420+1C>T,NM_004006:exon25:c.3432+1C>T,NM_004010:exon25:c.3063+1C>T | . | . | Xp21.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.642 | 24.5 | 0.993 | 0.987 | D | . | . | . | . | . | . | 5.43 | 0.871 | 0.935 | 0.846 | 0.565 | 18.384 | Deleterious (FATHMM) |
| 1938 | X | 32468509 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32468509 | 32468509 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_000109:exon23:c.C3127A:p.R1043R,DMD:NM_004006:exon23:c.C3151A:p.R1051R,DMD:NM_004009:exon23:c.C3139A:p.R1047R,DMD:NM_004010:exon23:c.C2782A:p.R928R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1939 | X | 32484925 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32484925 | 32484925 | C | T | exonic | DMD | . | nonsynonymous SNV | DMD:NM_000109:exon21:c.C2773A:p.Q925K,DMD:NM_004006:exon21:c.C2797A:p.Q933K,DMD:NM_004009:exon21:c.C2785A:p.Q929K,DMD:NM_004010:exon21:c.C2428A:p.Q810K | Xp21.1 | . | rs756949497 | 0.304 | T | 0.963 | D | 0.959 | D | 0.003 | U | 0.761 | D | 0.975 | L | 1.28 | T | -1.21 | N | 0.57 | 3.685 | 23.3 | 0.991 | 0.968 | D | -1.008 | T | 0.147 | T | . | . | 5.24 | 0.917 | 0.998 | 1.000 | 1.000 | 17.953 | Tolerated |
| 1940 | X | 32573834 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32573834 | 32573834 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_000109:exon14:c.C1591A:p.R531R,DMD:NM_004006:exon14:c.C1615A:p.R539R,DMD:NM_004009:exon14:c.C1603A:p.R535R,DMD:NM_004010:exon14:c.C1246A:p.R416R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1941 | X | 32809559 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32809559 | 32809559 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_000109:exon7:c.C559A:p.R187R,DMD:NM_004006:exon7:c.C583A:p.R195R,DMD:NM_004009:exon7:c.C571A:p.R191R,DMD:NM_004010:exon7:c.C214A:p.R72R | Xp21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1942 | X | 32816565 | C | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 32816565 | 32816565 | C | T | exonic | DMD | . | synonymous SNV | DMD:NM_000109:exon6:c.C409A:p.R137R,DMD:NM_004006:exon6:c.C433A:p.R145R,DMD:NM_004009:exon6:c.C421A:p.R141R,DMD:NM_004010:exon6:c.C64A:p.R22R | Xp21.1 | . | rs128626235 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1943 | X | 33211281 | G | T | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 33211281 | 33211281 | G | T | splicing | DMD | NM_004006:exon1:c.31+1C>A | . | . | Xp21.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.891 | 24.9 | 0.992 | 0.958 | D | . | . | . | . | . | . | 5.98 | 0.871 | 0.935 | 1.000 | 1.000 | 18.145 | Deleterious (FATHMM) |
| 1944 | X | 33211304 | G | A | Pathogenic | DMD | . | . | . | . | . | . | . | . | . | . | X | 33211304 | 33211304 | G | A | exonic | DMD | . | nonsynonymous SNV | DMD:NM_004006:exon1:c.G9T:p.W3C | Xp21.1 | . | . | 0.0 | D | 0.698 | P | 0.27 | B | 0.004 | U | 1 | D | 0.69 | N | 0.28 | T | 0.25 | N | 0.88 | 6.248 | 28.9 | 0.984 | 0.966 | D | -0.572 | T | 0.236 | T | . | . | 5.98 | 0.871 | 0.935 | 1.000 | 1.000 | 18.145 | Tolerated |
| 1945 | X | 41542805 | C | T | Pathogenic | CASK | . | . | . | . | . | . | . | . | . | . | X | 41542805 | 41542805 | C | T | exonic | CASK | . | synonymous SNV | CASK:NM_001126055:exon20:c.C1954A:p.R652R,CASK:NM_001126054:exon21:c.C1972A:p.R658R,CASK:NM_003688:exon22:c.C2041A:p.R681R | Xp11.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1946 | X | 43949981 | C | T | Pathogenic | NDP | . | . | . | . | . | . | . | . | . | . | X | 43949981 | 43949981 | C | T | exonic | NDP | . | nonsynonymous SNV | NDP:NM_000266:exon3:c.C220A:p.R74S | Xp11.3 | . | . | 0.0 | D | 0.997 | D | 0.993 | D | 0.000 | D | 1 | D | 0.805 | L | -5.38 | D | -1.95 | N | 0.849 | 2.636 | 20.4 | 0.990 | 0.978 | D | 1.148 | D | 0.955 | D | . | . | 5.96 | 0.917 | 1.036 | 0.992 | 0.986 | 19.357 | Deleterious |
| 1947 | X | 53382645 | G | A | Pathogenic/Likely pathogenic | SMC1A | . | . | . | . | . | . | . | . | . | . | X | 53382645 | 53382645 | G | A | exonic | SMC1A | . | nonsynonymous SNV | SMC1A:NM_006306:exon21:c.G3146T:p.R1049L,SMC1A:NM_001281463:exon22:c.G3080T:p.R1027L | Xp11.22 | . | . | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.125 | M | -1.18 | T | -6.56 | D | 0.741 | 7.198 | 34 | 0.998 | 0.966 | D | 0.458 | D | 0.659 | D | . | . | 4.17 | -0.001 | 0.935 | 0.967 | 0.998 | 11.976 | Deleterious |
| 1948 | X | 69616310 | T | C | Pathogenic | EDA | . | . | . | . | . | . | . | . | . | . | X | 69616310 | 69616310 | T | C | exonic | EDA | . | nonsynonymous SNV | EDA:NM_001005609:exon1:c.T2C:p.M1T,EDA:NM_001005610:exon1:c.T2C:p.M1T,EDA:NM_001005612:exon1:c.T2C:p.M1T,EDA:NM_001005613:exon1:c.T2C:p.M1T,EDA:NM_001399:exon1:c.T2C:p.M1T | Xq13.1 | . | rs397516659 | 0.0 | D | 0.978 | D | 0.806 | P | 0.001 | D | 1 | D | . | . | -3.62 | D | 0.18 | N | 0.916 | 2.424 | 18.98 | 0.968 | 0.763 | D | 0.992 | D | 0.920 | D | . | . | 4.56 | 0.991 | 1.058 | 1.000 | 1.000 | 5.851 | Deleterious |
| 1949 | X | 69957093 | C | T | Pathogenic | EDA | . | . | . | . | . | . | . | . | . | . | X | 69957093 | 69957093 | C | T | exonic | EDA | . | nonsynonymous SNV | EDA:NM_001005609:exon2:c.C463T:p.R155C,EDA:NM_001005612:exon2:c.C463T:p.R155C,EDA:NM_001399:exon2:c.C463T:p.R155C | Xq13.1 | . | rs132630312 | 0.001 | D | 0.014 | B | 0.003 | B | 0.542 | N | 0.944 | A | 0.55 | N | -0.64 | T | -1.35 | N | 0.727 | 5.229 | 25.6 | 0.995 | 0.631 | D | -0.140 | T | 0.549 | D | . | . | 3.2 | 0.871 | 0.935 | 0.997 | 0.995 | 6.746 | Deleterious |
| 1950 | X | 69957097 | G | A | Pathogenic | EDA | . | . | . | . | . | . | . | . | . | . | X | 69957097 | 69957097 | G | A | exonic | EDA | . | nonsynonymous SNV | EDA:NM_001005609:exon2:c.G467A:p.R156H,EDA:NM_001005612:exon2:c.G467A:p.R156H,EDA:NM_001399:exon2:c.G467A:p.R156H | Xq13.1 | . | rs132630314 | 0.011 | D | 0.999 | D | 0.936 | D | 0.006 | N | 0.960 | D | 0.895 | L | -0.56 | T | -0.5 | N | 0.761 | 4.195 | 23.9 | 0.997 | 0.903 | D | 0.601 | D | 0.755 | D | . | . | 4.97 | 0.917 | 1.048 | 0.998 | 1.000 | 12.463 | Deleterious |
| 1951 | X | 70029527 | C | T | Pathogenic | EDA | . | . | . | . | . | . | . | . | . | . | X | 70029527 | 70029527 | C | T | exonic | EDA | . | stopgain | EDA:NM_001005609:exon5:c.C730T:p.R244X,EDA:NM_001005612:exon5:c.C730T:p.R244X,EDA:NM_001399:exon5:c.C730T:p.R244X | Xq13.1 | . | rs397516672 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.038 | 38 | 0.995 | 0.900 | D | . | . | . | . | . | . | 1.57 | 0.598 | 0.935 | 0.997 | 0.998 | 13.214 | Deleterious (FATHMM) |
| 1952 | X | 70033475 | G | A | Pathogenic | EDA | . | . | . | . | . | . | . | . | . | . | X | 70033475 | 70033475 | G | A | exonic | EDA | . | nonsynonymous SNV | EDA:NM_001005609:exon7:c.G871A:p.G291R,EDA:NM_001005612:exon7:c.G862A:p.G288R,EDA:NM_001399:exon7:c.G871A:p.G291R | Xq13.1 | . | rs397516677 | 0.006 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 1.955 | M | -6.42 | D | -3.7 | D | 0.948 | 6.997 | 33 | 0.999 | 0.928 | D | 1.044 | D | 0.985 | D | . | . | 5.48 | 0.917 | 1.048 | 1.000 | 0.997 | 17.227 | Deleterious |
| 1953 | X | 71108336 | C | T | Pathogenic | IL2RG | . | . | . | . | . | . | . | . | . | . | X | 71108336 | 71108336 | C | T | exonic | IL2RG | . | synonymous SNV | IL2RG:NM_000206:exon7:c.C865A:p.R289R | Xq13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1954 | X | 71110295 | T | C | Pathogenic/Likely pathogenic | IL2RG | . | . | . | . | . | . | . | . | . | . | X | 71110295 | 71110295 | T | C | exonic | IL2RG | . | nonsynonymous SNV | IL2RG:NM_000206:exon4:c.T455G:p.V152G | Xq13.1 | . | . | 0.002 | D | 1.0 | D | 0.999 | D | 0.000 | N | 1 | D | 2.175 | M | -4.19 | D | -5.84 | D | 0.924 | 5.025 | 25.2 | 0.997 | 0.920 | D | 1.036 | D | 0.920 | D | . | . | 5.34 | 1.062 | 1.199 | 1.000 | 1.000 | 12.085 | Deleterious |
| 1955 | X | 71223249 | C | T | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71223249 | 71223249 | C | T | UTR5 | GJB1 | NM_000166:c.-459C>T | . | . | Xq13.1 | . | rs863224971 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1956 | X | 71223750 | C | T | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71223750 | 71223750 | C | T | exonic | GJB1 | . | nonsynonymous SNV | GJB1:NM_000166:exon2:c.C43T:p.R15W,GJB1:NM_001097642:exon2:c.C43T:p.R15W | Xq13.1 | . | rs116840815 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1.000 | A | 2.34 | M | -5.49 | D | -5.46 | D | 0.839 | 6.550 | 31 | 0.999 | 0.845 | D | 1.096 | D | 0.970 | D | . | . | 4.36 | 0.868 | 0.847 | 0.999 | 1.000 | 15.939 | Deleterious |
| 1957 | X | 71223751 | G | A | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71223751 | 71223751 | G | A | exonic | GJB1 | . | nonsynonymous SNV | GJB1:NM_000166:exon2:c.G44A:p.R15Q,GJB1:NM_001097642:exon2:c.G44A:p.R15Q | Xq13.1 | . | rs863224974 | 0.062 | T | 0.995 | D | 0.936 | D | 0.000 | D | 1.000 | D | 0.925 | L | -5.37 | D | -1.57 | N | 0.784 | 4.752 | 24.7 | 0.999 | 0.826 | D | 1.109 | D | 0.948 | D | . | . | 4.36 | 0.913 | 0.947 | 1.000 | 1.000 | 15.939 | Deleterious |
| 1958 | X | 71223990 | G | A | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71223990 | 71223990 | G | A | exonic | GJB1 | . | nonsynonymous SNV | GJB1:NM_000166:exon2:c.G283A:p.V95M,GJB1:NM_001097642:exon2:c.G283A:p.V95M | Xq13.1 | . | rs104894821 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | A | 3.065 | M | -5.61 | D | -2.96 | D | 0.942 | 4.949 | 25.0 | 0.999 | 0.954 | D | 1.050 | D | 0.982 | D | . | . | 4.67 | 0.913 | 0.947 | 1.000 | 1.000 | 16.960 | Deleterious |
| 1959 | X | 71224012 | A | G | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71224012 | 71224012 | A | G | exonic | GJB1 | . | nonsynonymous SNV | GJB1:NM_000166:exon2:c.A305G:p.E102G,GJB1:NM_001097642:exon2:c.A305G:p.E102G | Xq13.1 | . | rs779696968 | 0.003 | D | 0.959 | D | 0.635 | P | 0.000 | D | 1.000 | D | 2.225 | M | -5.55 | D | -4.9 | D | 0.781 | 3.748 | 23.3 | 0.998 | 0.950 | D | 1.066 | D | 0.950 | D | . | . | 4.67 | 1.058 | 1.081 | 0.998 | 1.000 | 13.454 | Deleterious |
| 1960 | X | 71224197 | C | T | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71224197 | 71224197 | C | T | exonic | GJB1 | . | nonsynonymous SNV | GJB1:NM_000166:exon2:c.C490T:p.R164W,GJB1:NM_001097642:exon2:c.C490T:p.R164W | Xq13.1 | 9.5e-05 | rs139643362 | 0.154 | T | 0.986 | D | 0.581 | P | 0.000 | D | 1 | D | 2.305 | M | -3.81 | D | -5.78 | D | 0.987 | 5.738 | 26.9 | 0.998 | 0.935 | D | 0.821 | D | 0.849 | D | . | . | 3.91 | 0.868 | 0.850 | 1.000 | 0.998 | 13.728 | Deleterious |
| 1961 | X | 71224254 | C | T | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71224254 | 71224254 | C | T | exonic | GJB1 | . | nonsynonymous SNV | GJB1:NM_000166:exon2:c.C547T:p.R183C,GJB1:NM_001097642:exon2:c.C547T:p.R183C | Xq13.1 | . | rs863224471 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.265 | M | -4.4 | D | -7.31 | D | 0.992 | 6.316 | 29.2 | 0.999 | 0.863 | D | 1.105 | D | 0.958 | D | . | . | 4.99 | 0.868 | 0.934 | 0.998 | 0.993 | 17.503 | Deleterious |
| 1962 | X | 71224365 | C | T | Pathogenic | GJB1 | . | . | . | . | . | . | . | . | . | . | X | 71224365 | 71224365 | C | T | exonic | GJB1 | . | stopgain | GJB1:NM_000166:exon2:c.C658T:p.R220X,GJB1:NM_001097642:exon2:c.C658T:p.R220X | Xq13.1 | . | rs104894814 | . | . | . | . | . | . | 0.038 | N | 1 | A | . | . | . | . | . | . | . | 9.855 | 36 | 0.994 | 0.743 | D | . | . | . | . | . | . | 1.96 | 0.868 | 0.043 | 0.994 | 0.987 | 12.810 | Deleterious (FATHMM) |
| 1963 | X | 72495216 | C | T | Pathogenic | HDAC8 | . | . | . | . | . | . | . | . | . | . | X | 72495216 | 72495216 | C | T | exonic | HDAC8 | . | synonymous SNV | HDAC8:NM_001166418:exon3:c.C217A:p.R73R,HDAC8:NM_001166448:exon3:c.C217A:p.R73R,HDAC8:NM_001166419:exon5:c.C490A:p.R164R,HDAC8:NM_018486:exon5:c.C490A:p.R164R | Xq13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1964 | X | 74525834 | C | T | Pathogenic/Likely pathogenic | SLC16A2 | . | . | . | . | . | . | . | . | . | . | X | 74525834 | 74525834 | C | T | exonic | SLC16A2 | . | nonsynonymous SNV | SLC16A2:NM_006517:exon4:c.C1111T:p.R371C | Xq13.2 | . | rs587784384 | . | . | 0.988 | D | 0.746 | P | 0.000 | D | 1 | D | 2.675 | M | 0.3 | T | . | . | 0.994 | 7.292 | 34 | 0.999 | 0.966 | D | -0.166 | T | 0.356 | T | . | . | 4.94 | 0.871 | 0.935 | 0.987 | 0.996 | 17.480 | Tolerated |
| 1965 | X | 77684520 | C | T | Pathogenic | ATRX | . | . | . | . | . | . | . | . | . | . | X | 77684520 | 77684520 | C | T | exonic | ATRX | . | nonsynonymous SNV | ATRX:NM_138270:exon8:c.C622A:p.R208S,ATRX:NM_000489:exon9:c.C736A:p.R246S | Xq21.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.545 | M | -5.17 | D | -3.34 | D | 0.924 | 5.883 | 27.4 | 0.988 | 0.986 | D | 1.105 | D | 0.970 | D | . | . | 5.52 | 0.917 | 0.953 | 0.994 | 0.990 | 18.446 | Deleterious |
| 1966 | X | 77988722 | C | T | Pathogenic | ATP7A | . | . | . | . | . | . | . | . | . | . | X | 77988722 | 77988722 | C | T | exonic | ATP7A | . | stopgain | ATP7A:NM_000052:exon3:c.C601T:p.R201X,ATP7A:NM_001282224:exon3:c.C601T:p.R201X | Xq21.1 | . | rs151340633 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.316 | 36 | 0.997 | 0.895 | D | . | . | . | . | . | . | 3.26 | 0.871 | -0.008 | 0.999 | 0.999 | 13.319 | Deleterious (FATHMM) |
| 1967 | X | 101397981 | G | A | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101397981 | 101397981 | G | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon7:c.G1118T:p.G373V | Xq22.1 | . | . | 0.001 | D | 0.998 | D | 0.79 | P | 0.000 | D | 1 | D | . | . | -6.29 | D | -3.81 | D | 0.629 | 4.808 | 24.8 | 0.993 | 0.852 | D | 1.048 | D | 0.979 | D | . | . | 5.05 | 0.871 | 0.935 | 0.480 | 0.899 | 14.25 | Deleterious |
| 1968 | X | 101398075 | C | T | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398075 | 101398075 | C | T | exonic | GLA | . | synonymous SNV | GLA:NM_000169:exon7:c.C1024A:p.R342R | Xq22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1969 | X | 101398395 | G | A | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398395 | 101398395 | G | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon6:c.G974T:p.G325V | Xq22.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | . | . | -9.04 | D | -8.79 | D | 0.975 | 6.814 | 32 | 0.998 | 0.979 | D | 0.859 | D | 0.998 | D | . | . | 5.76 | 0.871 | 0.935 | 1.000 | 1.000 | 18.976 | Deleterious |
| 1970 | X | 101398467 | G | A | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398467 | 101398467 | G | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon6:c.G902T:p.R301L | Xq22.1 | 9.5e-05 | rs104894828 | 0.005 | D | 1.0 | D | 0.987 | D | 0.000 | D | 1.000 | D | . | . | -6.56 | D | -6.7 | D | 0.977 | 7.347 | 34 | 0.999 | 0.950 | D | 1.012 | D | 0.988 | D | . | . | 5.05 | 0.871 | 0.935 | 0.973 | 0.992 | 14.322 | Deleterious |
| 1971 | X | 101398468 | C | T | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398468 | 101398468 | C | T | exonic | GLA | . | synonymous SNV | GLA:NM_000169:exon6:c.C901A:p.R301R | Xq22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1972 | X | 101398522 | C | T | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398522 | 101398522 | C | T | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon6:c.C847A:p.Q283K | Xq22.1 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | . | . | -6.53 | D | -3.81 | D | 0.902 | 6.046 | 28.0 | 0.996 | 0.974 | D | 1.014 | D | 0.989 | D | . | . | 5.71 | 0.917 | 1.048 | 0.999 | 0.999 | 18.870 | Deleterious |
| 1973 | X | 101398873 | G | A | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398873 | 101398873 | G | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon5:c.G713T:p.S238I | Xq22.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | . | . | -8.42 | D | -5.85 | D | 0.97 | 6.338 | 29.3 | 0.996 | 0.872 | D | 0.850 | D | 0.997 | D | . | . | 5.11 | 0.871 | 0.935 | 0.981 | 0.979 | 15.719 | Deleterious |
| 1974 | X | 101398906 | G | A | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398906 | 101398906 | G | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon5:c.G680T:p.R227L | Xq22.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | . | . | -10.24 | D | -6.91 | D | 0.995 | 7.410 | 34 | 0.999 | 0.951 | D | 0.894 | D | 0.999 | D | . | . | 5.67 | 0.871 | 0.935 | 0.984 | 0.999 | 19.024 | Deleterious |
| 1975 | X | 101398907 | C | T | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398907 | 101398907 | C | T | exonic | GLA | . | synonymous SNV | GLA:NM_000169:exon5:c.C679A:p.R227R | Xq22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1976 | X | 101398942 | A | G | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101398942 | 101398942 | A | G | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon5:c.A644C:p.N215T | Xq22.1 | . | . | 0.002 | D | 0.634 | P | 0.103 | B | 0.000 | D | 1.000 | D | . | . | -7.53 | D | -5.37 | D | 0.539 | 5.676 | 26.7 | 0.990 | 0.957 | D | 1.078 | D | 0.979 | D | . | . | 5.97 | 0.991 | 1.058 | 0.973 | 0.999 | 15.388 | Deleterious |
| 1977 | X | 101400692 | C | A | Pathogenic/Likely pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101400692 | 101400692 | C | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon4:c.C613T:p.P205S | Xq22.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | . | . | -8.42 | D | -7.9 | D | 0.766 | 6.137 | 28.4 | 0.999 | 0.987 | D | 0.854 | D | 0.997 | D | . | . | 5.26 | 0.917 | 1.045 | 0.997 | 0.993 | 18.015 | Deleterious |
| 1978 | X | 101401710 | C | T | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101401710 | 101401710 | C | T | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon3:c.C469A:p.Q157K | Xq22.1 | . | . | 0.299 | T | 0.001 | B | 0.002 | B | 0.000 | N | 0.940 | N | . | . | -7.97 | D | -1.71 | N | 0.187 | 0.692 | 8.773 | 0.848 | 0.282 | N | 1.098 | D | 0.977 | D | . | . | -4.97 | -0.033 | 0.049 | 0.997 | 0.992 | 15.544 | Deleterious |
| 1979 | X | 101401752 | G | C | Pathogenic/Likely pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101401752 | 101401752 | G | C | exonic | GLA | . | synonymous SNV | GLA:NM_000169:exon3:c.G427G:p.A143A | Xq22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1980 | X | 101403938 | G | A | Pathogenic | GLA|RPL36A-HNRNPH2 | . | . | . | . | . | . | . | . | . | . | X | 101403938 | 101403938 | G | A | exonic | GLA | . | nonsynonymous SNV | GLA:NM_000169:exon2:c.G242T:p.W81L | Xq22.1 | . | . | 0.008 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | . | . | -7.93 | D | -6.82 | D | 0.89 | 6.947 | 33 | 0.988 | 0.990 | D | 0.950 | D | 0.995 | D | . | . | 5.65 | 0.871 | 0.931 | 0.999 | 1.000 | 18.778 | Deleterious |
| 1981 | X | 108598793 | G | A | Pathogenic | COL4A5 | . | . | . | . | . | . | . | . | . | . | X | 108598793 | 108598793 | G | A | exonic | COL4A5 | . | nonsynonymous SNV | COL4A5:NM_000495:exon25:c.G1871A:p.G624D | Xq22.3 | 9.5e-05 | rs104886142 | 0.119 | T | 0.999 | D | 0.98 | D | 0.000 | D | 1 | A | 3.36 | M | -4.85 | D | -4.83 | D | 0.958 | 2.962 | 22.1 | 0.994 | 0.991 | D | 1.076 | D | 0.971 | D | . | . | 5.07 | 0.917 | 0.112 | 0.796 | 0.894 | 16.270 | Deleterious |
| 1982 | X | 111331036 | C | T | Pathogenic | DCX | . | . | . | . | . | . | . | . | . | . | X | 111331036 | 111331036 | C | T | exonic | DCX | . | synonymous SNV | DCX:NM_000555:exon5:c.C1057A:p.R353R,DCX:NM_001195553:exon5:c.C814A:p.R272R,DCX:NM_178151:exon5:c.C814A:p.R272R,DCX:NM_178152:exon5:c.C814A:p.R272R,DCX:NM_178153:exon5:c.C814A:p.R272R | Xq23 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1983 | X | 111333078 | C | T | Pathogenic | DCX | . | . | . | . | . | . | . | . | . | . | X | 111333078 | 111333078 | C | T | exonic | DCX | . | nonsynonymous SNV | DCX:NM_000555:exon4:c.C1024A:p.Q342K,DCX:NM_001195553:exon4:c.C781A:p.Q261K,DCX:NM_178151:exon4:c.C781A:p.Q261K,DCX:NM_178152:exon4:c.C781A:p.Q261K,DCX:NM_178153:exon4:c.C781A:p.Q261K | Xq23 | . | . | 0.032 | D | 0.882 | P | 0.521 | P | 0.000 | D | 1.000 | D | 2.125 | M | -3.11 | D | -2.56 | D | 0.617 | 4.454 | 24.2 | 0.995 | 0.986 | D | 0.599 | D | 0.777 | D | . | . | 5.44 | 0.917 | 1.048 | 0.998 | 0.999 | 18.336 | Deleterious |
| 1984 | X | 111685040 | A | G | Pathogenic | ALG13 | . | . | . | . | . | . | . | . | . | . | X | 111685040 | 111685040 | A | G | exonic | ALG13 | . | nonsynonymous SNV | ALG13:NM_001099922:exon3:c.A320G:p.N107S,ALG13:NM_001168385:exon3:c.A320G:p.N107S,ALG13:NM_001257230:exon3:c.A8G:p.N3S,ALG13:NM_001257231:exon3:c.A86G:p.N29S,ALG13:NM_001257234:exon3:c.A8G:p.N3S,ALG13:NM_001257235:exon3:c.A8G:p.N3S,ALG13:NM_001257237:exon3:c.A8G:p.N3S,ALG13:NM_001257239:exon3:c.A8G:p.N3S,ALG13:NM_001257240:exon3:c.A8G:p.N3S,ALG13:NM_001257241:exon3:c.A86G:p.N29S,ALG13:NM_018466:exon3:c.A320G:p.N107S | Xq23 | . | rs398122394 | 0.0 | D | 0.994 | D | 0.858 | P | . | . | 1.000 | N | . | . | 0.31 | T | -1.59 | N | 0.187 | 4.440 | 24.2 | 0.998 | 0.936 | D | -0.494 | T | 0.497 | T | . | . | 2.13 | 1.062 | 1.194 | 1.000 | 1.000 | 6.4 | Tolerated |
| 1985 | X | 120442599 | G | A | Pathogenic | LAMP2 | . | . | . | . | . | . | . | . | . | . | X | 120442599 | 120442599 | G | A | exonic | LAMP2 | . | nonsynonymous SNV | LAMP2:NM_001122606:exon7:c.G928T:p.V310F,LAMP2:NM_002294:exon7:c.G928T:p.V310F,LAMP2:NM_013995:exon7:c.G928T:p.V310F | Xq24 | . | . | 0.043 | D | 0.98 | D | 0.886 | P | 0.550 | N | 0.949 | D | 2.28 | M | 1.36 | T | -2.34 | N | 0.479 | 4.005 | 23.6 | 0.996 | 0.980 | D | -0.599 | T | 0.222 | T | . | . | 5.17 | 0.871 | 0.935 | 0.990 | 0.921 | 16.156 | Tolerated |
| 1986 | X | 120442650 | C | T | Pathogenic | LAMP2 | . | . | . | . | . | . | . | . | . | . | X | 120442650 | 120442650 | C | T | exonic | LAMP2 | . | synonymous SNV | LAMP2:NM_001122606:exon7:c.C877A:p.R293R,LAMP2:NM_002294:exon7:c.C877A:p.R293R,LAMP2:NM_013995:exon7:c.C877A:p.R293R | Xq24 | . | rs727503118 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1987 | X | 120446304 | G | T | Pathogenic | LAMP2 | . | . | . | . | . | . | . | . | . | . | X | 120446304 | 120446304 | G | T | splicing | LAMP2 | NM_001122606:exon6:c.864+1C>A,NM_002294:exon6:c.864+1C>A,NM_013995:exon6:c.864+1C>A | . | . | Xq24 | . | rs727503119 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.272 | 25.7 | 0.995 | 0.982 | D | . | . | . | . | . | . | 5.53 | 0.871 | 0.935 | 0.980 | 0.998 | 15.486 | Deleterious (FATHMM) |
| 1988 | X | 120446374 | C | A | Pathogenic/Likely pathogenic | LAMP2 | . | . | . | . | . | . | . | . | . | . | X | 120446374 | 120446374 | C | A | exonic | LAMP2 | . | synonymous SNV | LAMP2:NM_001122606:exon6:c.C795T:p.C265C,LAMP2:NM_002294:exon6:c.C795T:p.C265C,LAMP2:NM_013995:exon6:c.C795T:p.C265C | Xq24 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1989 | X | 120455461 | G | A | Pathogenic | LAMP2 | . | . | . | . | . | . | . | . | . | . | X | 120455461 | 120455461 | G | A | exonic | LAMP2 | . | nonsynonymous SNV | LAMP2:NM_001122606:exon3:c.G293T:p.W98L,LAMP2:NM_002294:exon3:c.G293T:p.W98L,LAMP2:NM_013995:exon3:c.G293T:p.W98L | Xq24 | . | . | 0.547 | T | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.2 | M | 1.58 | T | -4.09 | D | 0.866 | 4.542 | 24.3 | 0.983 | 0.931 | D | -0.877 | T | 0.157 | T | . | . | 5.44 | 0.871 | 0.931 | 0.297 | 0.161 | 15.581 | Tolerated |
| 1990 | X | 133699902 | C | T | Pathogenic | GPC3 | . | . | . | . | . | . | . | . | . | . | X | 133699902 | 133699902 | C | T | exonic | GPC3 | . | synonymous SNV | GPC3:NM_001164619:exon3:c.C997A:p.R333R,GPC3:NM_001164618:exon4:c.C1111A:p.R371R,GPC3:NM_004484:exon4:c.C1159A:p.R387R,GPC3:NM_001164617:exon5:c.C1228A:p.R410R | Xq26.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1991 | X | 149482996 | G | A | Pathogenic | IDS | . | . | . | . | . | . | . | . | . | . | X | 149482996 | 149482996 | G | A | exonic | IDS | . | nonsynonymous SNV | IDS:NM_000202:exon9:c.G1403T:p.R468L,IDS:NM_001166550:exon9:c.G1133T:p.R378L | Xq28 | . | rs113993946 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.705 | M | -6.04 | D | -6.72 | D | 0.955 | 6.880 | 33 | 0.998 | 0.979 | D | 0.981 | D | 0.991 | D | . | . | 5.37 | 0.871 | 0.892 | 0.997 | 0.996 | 18.240 | Deleterious |
| 1992 | X | 149482997 | C | T | Pathogenic | IDS | . | . | . | . | . | . | . | . | . | . | X | 149482997 | 149482997 | C | T | exonic | IDS | . | synonymous SNV | IDS:NM_000202:exon9:c.C1402A:p.R468R,IDS:NM_001166550:exon9:c.C1132A:p.R378R | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1993 | X | 149490322 | C | T | Pathogenic | IDS | . | . | . | . | . | . | . | . | . | . | X | 149490322 | 149490322 | C | T | exonic | IDS | . | stopgain | IDS:NM_000202:exon7:c.C998A:p.S333X,IDS:NM_001166550:exon7:c.C728A:p.S243X,IDS:NM_006123:exon7:c.C998A:p.S333X | Xq28 | . | . | . | . | . | . | . | . | 0.001 | N | 1 | A | . | . | . | . | . | . | . | 12.121 | 38 | 0.994 | 0.985 | D | . | . | . | . | . | . | 4.85 | 0.866 | 1.048 | 0.320 | 0.119 | 17.275 | Deleterious (FATHMM) |
| 1994 | X | 149503477 | G | A | Pathogenic | IDS | . | . | . | . | . | . | . | . | . | . | X | 149503477 | 149503477 | G | A | exonic | IDS | . | nonsynonymous SNV | IDS:NM_000202:exon3:c.G253T:p.A85S,IDS:NM_006123:exon3:c.G253T:p.A85S | Xq28 | . | . | 0.339 | T | 0.996 | D | 0.934 | D | 0.000 | D | 1 | D | 0.87 | L | -3.82 | D | -1.85 | N | 0.8 | 6.653 | 32 | 0.997 | 0.928 | D | 1.051 | D | 0.925 | D | . | . | 4.43 | 0.871 | 0.014 | 0.960 | 0.732 | 16.556 | Deleterious |
| 1995 | X | 150598687 | G | A | Pathogenic | MTM1 | . | . | . | . | . | . | . | . | . | . | X | 150598687 | 150598687 | G | A | splicing | MTM1 | NM_000252:exon4:c.231+1G>A | . | . | Xq28 | . | rs587783810 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.853 | 24.8 | 0.995 | 0.944 | D | . | . | . | . | . | . | 5.5 | 0.866 | 1.048 | 1.000 | 1.000 | 17.123 | Deleterious (FATHMM) |
| 1996 | X | 150645725 | C | T | Pathogenic | MTM1 | . | . | . | . | . | . | . | . | . | . | X | 150645725 | 150645725 | C | T | exonic | MTM1 | . | nonsynonymous SNV | MTM1:NM_000252:exon9:c.C721T:p.R241C | Xq28 | . | rs132630305 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.67 | H | -4.78 | D | -7.83 | D | 0.995 | 8.099 | 35 | 0.999 | 0.984 | D | 1.010 | D | 0.984 | D | . | . | 5.93 | 0.824 | 0.935 | 0.999 | 0.999 | 19.293 | Deleterious |
| 1997 | X | 150659654 | A | G | Pathogenic | MTM1 | . | . | . | . | . | . | . | . | . | . | X | 150659654 | 150659654 | A | G | intronic | MTM1 | . | . | . | Xq28 | . | rs397518445 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1998 | X | 150659664 | C | T | Pathogenic | MTM1 | . | . | . | . | . | . | . | . | . | . | X | 150659664 | 150659664 | C | T | exonic | MTM1 | . | stopgain | MTM1:NM_000252:exon12:c.C1261T:p.R421X | Xq28 | . | rs587783771 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.468 | 39 | 0.996 | 0.847 | D | . | . | . | . | . | . | 4.25 | 0.005 | 0.163 | 0.997 | 1.000 | 11.823 | Deleterious (FATHMM) |
| 1999 | X | 153725687 | G | A | Pathogenic | ABCD1 | . | . | . | . | . | . | . | . | . | . | X | 153725687 | 153725687 | G | A | exonic | ABCD1 | . | nonsynonymous SNV | ABCD1:NM_000033:exon1:c.G421A:p.A141T | Xq28 | . | rs193922097 | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | N | 1 | A | 3.03 | M | -6.55 | D | -3.6 | D | 0.819 | 5.898 | 27.5 | 0.999 | 0.948 | D | 1.027 | D | 0.988 | D | . | . | 4.57 | 0.917 | 1.038 | 0.997 | 0.998 | 12.232 | Deleterious |
| 2000 | X | 153932410 | C | T | Pathogenic/Likely pathogenic | NAA10 | . | . | . | . | . | . | . | . | . | . | X | 153932410 | 153932410 | C | T | exonic | NAA10 | . | nonsynonymous SNV | NAA10:NM_001256119:exon5:c.C247A:p.R83S,NAA10:NM_001256120:exon5:c.C229A:p.R77S,NAA10:NM_003491:exon5:c.C247A:p.R83S | Xq28 | . | . | 0.001 | D | 0.976 | D | 0.865 | P | 0.000 | D | 1 | D | 2.79 | M | 0.38 | T | -5.36 | D | 0.951 | 5.500 | 26.2 | 0.997 | 0.937 | D | -0.280 | T | 0.323 | T | . | . | 4.14 | -0.045 | 0.953 | 0.984 | 0.999 | 12.884 | Tolerated |
| 2001 | X | 153964702 | C | T | Pathogenic | HCFC1 | . | . | . | . | . | . | . | . | . | . | X | 153964702 | 153964702 | C | T | exonic | HCFC1 | . | nonsynonymous SNV | HCFC1:NM_005334:exon2:c.C218A:p.A73D | Xq28 | . | . | 0.009 | D | 0.991 | D | 0.938 | D | 0.000 | D | 1 | D | 1.1 | L | 3.98 | T | -4.18 | D | 0.857 | 6.266 | 29.0 | 0.997 | 0.965 | D | -1.124 | T | 0.028 | T | . | . | 5.46 | 0.917 | 0.998 | 0.995 | 0.994 | 16.995 | Tolerated |
| 2002 | X | 154030911 | G | A | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154030911 | 154030911 | G | A | exonic | MECP2 | . | nonsynonymous SNV | MECP2:NM_001110792:exon3:c.G953T:p.R318L,MECP2:NM_004992:exon4:c.G917T:p.R306L,MECP2:NM_001316337:exon5:c.G638T:p.R213L | Xq28 | . | rs61751443 | 0.0 | D | 0.998 | D | 0.972 | D | 0.000 | D | 1 | D | 0.805 | L | -3.3 | D | -2.06 | N | 0.864 | 6.489 | 30 | 0.998 | 0.952 | D | 0.792 | D | 0.804 | D | . | . | 5.06 | 0.871 | 0.837 | 1.000 | 1.000 | 16.204 | Deleterious |
| 2003 | X | 154030912 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154030912 | 154030912 | C | T | exonic | MECP2 | . | nonsynonymous SNV | MECP2:NM_001110792:exon3:c.C952A:p.R318S,MECP2:NM_004992:exon4:c.C916A:p.R306S,MECP2:NM_001316337:exon5:c.C637A:p.R213S | Xq28 | . | . | 0.0 | D | 0.998 | D | 0.972 | D | 0.000 | D | 1 | D | 0.805 | L | -3.29 | D | -0.98 | N | 0.903 | 6.054 | 28.1 | 0.998 | 0.983 | D | 0.678 | D | 0.798 | D | . | . | 5.06 | 0.917 | 0.937 | 1.000 | 1.000 | 16.204 | Deleterious |
| 2004 | X | 154030948 | C | T | Pathogenic/Likely pathogenic, risk factor | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154030948 | 154030948 | C | T | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon3:c.C916A:p.R306R,MECP2:NM_004992:exon4:c.C880A:p.R294R,MECP2:NM_001316337:exon5:c.C601A:p.R201R | Xq28 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 0.105 | 3.663 | 0.568 | 0.641 | D | . | . | . | . | . | . | 3.11 | -0.045 | 0.937 | 0.987 | 0.993 | 11.422 | Deleterious (FATHMM) |
| 2005 | X | 154031020 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031020 | 154031020 | C | T | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon3:c.C844A:p.R282R,MECP2:NM_004992:exon4:c.C808A:p.R270R,MECP2:NM_001316337:exon5:c.C529A:p.R177R | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 2006 | X | 154031065 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031065 | 154031065 | C | T | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon3:c.C799A:p.R267R,MECP2:NM_004992:exon4:c.C763A:p.R255R,MECP2:NM_001316337:exon5:c.C484A:p.R162R | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 2007 | X | 154031098 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031098 | 154031098 | C | T | exonic | MECP2 | . | nonsynonymous SNV | MECP2:NM_001110792:exon3:c.C766A:p.Q256K,MECP2:NM_004992:exon4:c.C730A:p.Q244K,MECP2:NM_001316337:exon5:c.C451A:p.Q151K | Xq28 | . | . | 0.017 | D | 0.892 | P | 0.546 | P | 0.000 | D | 1 | D | 0.46 | N | -2.51 | D | -0.12 | N | 0.742 | 2.347 | 18.48 | 0.974 | 0.978 | D | 0.186 | D | 0.564 | D | . | . | 5.48 | 0.917 | 0.937 | 0.988 | 0.953 | 17.030 | Deleterious |
| 2008 | X | 154031326 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031326 | 154031326 | C | T | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon3:c.C538A:p.R180R,MECP2:NM_004992:exon4:c.C502A:p.R168R,MECP2:NM_001316337:exon5:c.C223A:p.R75R | Xq28 | . | rs61748421 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 0.282 | 5.522 | 0.569 | 0.910 | D | . | . | . | . | . | . | 4.59 | -0.020 | 0.006 | 0.996 | 0.998 | 11.396 | Deleterious (FATHMM) |
| 2009 | X | 154031355 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031355 | 154031355 | C | T | exonic | MECP2 | . | nonsynonymous SNV | MECP2:NM_001110792:exon3:c.C509A:p.T170K,MECP2:NM_004992:exon4:c.C473A:p.T158K,MECP2:NM_001316337:exon5:c.C194A:p.T65K | Xq28 | . | . | 0.009 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 0.84 | L | -5.81 | D | -4.27 | D | 0.884 | 6.007 | 27.9 | 0.994 | 0.992 | D | 1.141 | D | 0.961 | D | . | . | 5.48 | 0.917 | 0.937 | 1.000 | 1.000 | 17.030 | Deleterious |
| 2010 | X | 154031373 | C | G | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031373 | 154031373 | C | G | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon3:c.C491C:p.P164P,MECP2:NM_004992:exon4:c.C455C:p.P152P,MECP2:NM_001316337:exon5:c.C176C:p.P59P | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 2011 | X | 154031427 | C | G | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031427 | 154031427 | C | G | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon3:c.C437C:p.S146S,MECP2:NM_004992:exon4:c.C401C:p.S134S,MECP2:NM_001316337:exon5:c.C122C:p.S41S | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 2012 | X | 154031431 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154031431 | 154031431 | C | T | exonic | MECP2 | . | nonsynonymous SNV | MECP2:NM_001110792:exon3:c.C433A:p.R145S,MECP2:NM_004992:exon4:c.C397A:p.R133S,MECP2:NM_001316337:exon5:c.C118A:p.R40S | Xq28 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.07 | M | -4.77 | D | -6.0 | D | 0.979 | 6.265 | 29.0 | 0.998 | 0.991 | D | 1.097 | D | 0.969 | D | . | . | 5.24 | 0.917 | 0.949 | 1.000 | 1.000 | 16.577 | Deleterious |
| 2013 | X | 154032268 | C | T | Pathogenic | MECP2 | . | . | . | . | . | . | . | . | . | . | X | 154032268 | 154032268 | C | T | exonic | MECP2 | . | synonymous SNV | MECP2:NM_001110792:exon2:c.C352A:p.R118R,MECP2:NM_004992:exon3:c.C316A:p.R106R,MECP2:NM_001316337:exon4:c.C37A:p.R13R | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 2014 | X | 154532269 | G | T | Pathogenic, other | G6PD | . | . | . | . | . | . | . | . | . | . | X | 154532269 | 154532269 | G | T | exonic | G6PD | . | nonsynonymous SNV | G6PD:NM_000402:exon12:c.G1466A:p.R489H,G6PD:NM_001042351:exon12:c.G1376A:p.R459H | Xq28 | . | rs72554665 | 0.063 | T | 0.041 | B | 0.014 | B | 0.000 | D | 1 | D | 1.53 | L | -6.89 | D | -1.46 | N | 0.824 | 5.732 | 26.9 | 0.992 | 0.896 | D | 1.152 | D | 0.963 | D | . | . | 5.57 | 0.868 | 0.931 | 0.994 | 0.918 | 13.883 | Deleterious |
| 2015 | X | 154532390 | C | T | Pathogenic | G6PD | . | . | . | . | . | . | . | . | . | . | X | 154532390 | 154532390 | C | T | exonic | G6PD | . | nonsynonymous SNV | G6PD:NM_000402:exon11:c.C1450A:p.R484S,G6PD:NM_001042351:exon11:c.C1360A:p.R454S | Xq28 | . | . | 0.001 | D | 1.0 | D | 0.992 | D | 0.000 | D | 1 | D | 2.63 | M | -7.23 | D | -5.17 | D | 0.912 | 6.597 | 31 | 0.998 | 0.952 | D | 0.991 | D | 0.992 | D | . | . | 4.83 | 0.913 | 1.043 | 0.964 | 0.995 | 9.719 | Deleterious |
| 2016 | X | 154533122 | G | A | Pathogenic, other | G6PD | . | . | . | . | . | . | . | . | . | . | X | 154533122 | 154533122 | G | A | exonic | G6PD | . | nonsynonymous SNV | G6PD:NM_000402:exon9:c.G961T:p.V321L,G6PD:NM_001042351:exon9:c.G871T:p.V291L | Xq28 | . | . | 0.054 | T | 0.993 | D | 0.879 | P | 0.000 | D | 1 | D | 2.295 | M | -5.19 | D | -2.61 | D | 0.896 | 6.021 | 27.9 | 0.997 | 0.984 | D | 1.100 | D | 0.960 | D | . | . | 5.69 | 0.871 | 0.921 | 0.990 | 0.997 | 16.029 | Deleterious |
| 2017 | X | 154533596 | G | C | Pathogenic, other | G6PD | . | . | . | . | . | . | . | . | . | . | X | 154533596 | 154533596 | G | C | exonic | G6PD | . | synonymous SNV | G6PD:NM_000402:exon8:c.G934G:p.D312D,G6PD:NM_001042351:exon8:c.G844G:p.D282D | Xq28 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 2018 | X | 154534345 | G | T | Pathogenic, other | G6PD | . | . | . | . | . | . | . | . | . | . | X | 154534345 | 154534345 | G | T | exonic | G6PD | . | nonsynonymous SNV | G6PD:NM_000402:exon6:c.G727A:p.V243M,G6PD:NM_001042351:exon6:c.G637A:p.V213M | Xq28 | . | . | 0.038 | D | 0.664 | P | 0.242 | B | 0.000 | D | 1.000 | D | 1.905 | M | -7.13 | D | -1.5 | N | 0.798 | 5.692 | 26.8 | 0.998 | 0.858 | D | 1.049 | D | 0.970 | D | . | . | 4.61 | 0.871 | 0.932 | 1.000 | 1.000 | 6.891 | Deleterious |
| 2019 | X | 154534419 | C | T | Pathogenic/Likely pathogenic, other | G6PD | . | . | . | . | . | . | . | . | . | . | X | 154534419 | 154534419 | C | T | exonic | G6PD | . | nonsynonymous SNV | G6PD:NM_000402:exon6:c.C653A:p.S218Y,G6PD:NM_001042351:exon6:c.C563A:p.S188Y | Xq28 | . | . | 0.004 | D | 0.706 | P | 0.536 | P | 0.000 | D | 1 | D | 2.32 | M | -4.87 | D | -4.1 | D | 0.628 | 5.628 | 26.6 | 0.993 | 0.947 | D | 1.080 | D | 0.937 | D | . | . | 5.65 | 0.917 | 1.045 | 0.987 | 0.941 | 15.929 | Deleterious |
| 2020 | MT | 8993 | T | G | Pathogenic | MT-ATP6 | . | . | . | . | . | . | . | . | . | . | MT | 8993 | 8993 | T | G | intergenic | NONE,NONE | dist=NONE;dist=NONE | . | . | . | . | rs199476133 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1172 | 12 | 112454636 | A | T | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112454636 | 112454636 | A | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon5:c.A598T:p.N200Y,PTPN11:NM_080601:exon5:c.A598T:p.N200Y | 12q24.13 | . | rs727503381 | 0.08 | T | 0.843 | P | 0.805 | P | 0.000 | D | 1 | D | 2.75 | M | -1.11 | T | -4.61 | D | 0.813 | 4.828 | 24.8 | 0.985 | 0.989 | D | -0.085 | T | 0.440 | T | 0.707 | 0 | 5.65 | 1.062 | 1.119 | 0.998 | 1.000 | 15.868 | Tolerated |
| 1173 | 12 | 112472954 | A | G | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112472954 | 112472954 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.A767G:p.Q256R,PTPN11:NM_080601:exon7:c.A767G:p.Q256R | 12q24.13 | . | rs397507523 | 0.086 | T | 0.118 | B | 0.23 | B | 0.000 | D | 1 | D | 1.485 | L | -5.58 | D | -2.77 | D | 0.91 | 4.549 | 24.3 | 0.999 | 0.965 | D | 1.044 | D | 0.943 | D | 0.563 | 0 | 5.7 | 1.062 | 1.199 | 0.990 | 0.998 | 15.923 | Deleterious |
| 1174 | 12 | 112472961 | G | T | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112472961 | 112472961 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.G774T:p.E258D,PTPN11:NM_080601:exon7:c.G774T:p.E258D | 12q24.13 | . | rs397516809 | 0.175 | T | 0.013 | B | 0.051 | B | 0.000 | D | 1.000 | D | 1.935 | M | -5.62 | D | -2.44 | N | 0.855 | 2.615 | 20.3 | 0.991 | 0.838 | D | 0.719 | D | 0.924 | D | 0.563 | 0 | -0.476 | -0.310 | 0.154 | 0.997 | 0.999 | 9.335 | Deleterious |
| 1175 | 12 | 112472968 | C | T | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112472968 | 112472968 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.C781T:p.L261F,PTPN11:NM_080601:exon7:c.C781T:p.L261F | 12q24.13 | . | rs397507525 | 0.715 | T | 0.001 | B | 0.003 | B | 0.000 | D | 1 | D | 1.385 | L | -5.69 | D | -0.48 | N | 0.843 | 4.715 | 24.6 | 0.935 | 0.919 | D | 0.982 | D | 0.924 | D | 0.707 | 0 | 5.7 | 0.871 | 0.935 | 0.999 | 1.000 | 19.797 | Deleterious |
| 1176 | 12 | 112472989 | G | T | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112472989 | 112472989 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.G802T:p.G268C,PTPN11:NM_080601:exon7:c.G802T:p.G268C | 12q24.13 | . | rs397507527 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.175 | M | -5.68 | D | -8.19 | D | 0.969 | 6.915 | 33 | 0.997 | 0.973 | D | 1.059 | D | 0.984 | D | 0.707 | 0 | 5.7 | 0.917 | 1.048 | 0.997 | 0.998 | 19.797 | Deleterious |
| 1177 | 12 | 112473023 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112473023 | 112473023 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.A836G:p.Y279C,PTPN11:NM_080601:exon7:c.A836G:p.Y279C | 12q24.13 | . | rs121918456 | 0.0 | D | 0.939 | P | 0.827 | P | 0.000 | D | 1 | A | 3.625 | H | -6.01 | D | -7.75 | D | 0.986 | 4.526 | 24.3 | 0.997 | 0.957 | D | 1.023 | D | 0.985 | D | 0.563 | 0 | 5.7 | 1.062 | 1.199 | 1.000 | 1.000 | 15.243 | Deleterious |
| 1178 | 12 | 112473031 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112473031 | 112473031 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.A844G:p.I282V,PTPN11:NM_080601:exon7:c.A844G:p.I282V | 12q24.13 | . | rs397507529 | 0.0 | D | 0.605 | P | 0.348 | B | 0.000 | D | 1 | D | 1.78 | L | -1.71 | D | -0.88 | N | 0.809 | 3.820 | 23.4 | 0.996 | 0.957 | D | -0.043 | T | 0.509 | D | 0.563 | 0 | 5.7 | 1.062 | 1.199 | 0.999 | 1.000 | 15.243 | Deleterious |
| 1179 | 12 | 112473033 | C | G | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112473033 | 112473033 | C | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.C846G:p.I282M,PTPN11:NM_080601:exon7:c.C846G:p.I282M | 12q24.13 | . | rs397507530 | 0.0 | D | 0.999 | D | 0.989 | D | 0.000 | D | 1.000 | D | 3.805 | H | -2.01 | D | -2.63 | D | 0.87 | 3.238 | 22.8 | 0.994 | 0.776 | D | 0.403 | D | 0.771 | D | 0.563 | 0 | 1.34 | 0.033 | -0.327 | 0.998 | 0.997 | 4.928 | Deleterious |
| 1180 | 12 | 112473040 | T | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112473040 | 112473040 | T | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon7:c.T853C:p.F285L,PTPN11:NM_080601:exon7:c.T853C:p.F285L | 12q24.13 | . | rs397507531 | 0.031 | D | 0.837 | P | 0.688 | P | 0.000 | D | 1 | D | 1.665 | L | -5.54 | D | -5.07 | D | 0.926 | 4.754 | 24.7 | 0.998 | 0.942 | D | 1.094 | D | 0.951 | D | 0.563 | 0 | 5.7 | 0.991 | 1.061 | 1.000 | 0.999 | 15.243 | Deleterious |
| 1181 | 12 | 112477651 | T | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112477651 | 112477651 | T | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon8:c.T854G:p.F285C,PTPN11:NM_080601:exon8:c.T854G:p.F285C | 12q24.13 | . | rs121918463 | 0.005 | D | 0.991 | D | 0.937 | D | 0.000 | D | 1 | D | 2.6 | M | -5.69 | D | -6.96 | D | 0.981 | 4.489 | 24.3 | 0.993 | 0.996 | D | 1.081 | D | 0.976 | D | 0.490 | 0 | 5.25 | 0.991 | 1.056 | 1.000 | 0.993 | 15.221 | Deleterious |
| 1182 | 12 | 112477651 | T | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112477651 | 112477651 | T | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon8:c.T854C:p.F285S,PTPN11:NM_080601:exon8:c.T854C:p.F285S | 12q24.13 | . | rs121918463 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 3.035 | M | -5.68 | D | -7.0 | D | 0.974 | 4.629 | 24.5 | 0.999 | 0.989 | D | 1.064 | D | 0.981 | D | 0.490 | 0 | 5.25 | 0.991 | 1.056 | 1.000 | 0.993 | 15.221 | Deleterious |
| 1183 | 12 | 112477652 | T | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112477652 | 112477652 | T | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon8:c.T855G:p.F285L,PTPN11:NM_080601:exon8:c.T855G:p.F285L | 12q24.13 | . | rs397516810 | 0.031 | D | 0.837 | P | 0.688 | P | 0.000 | D | 1.000 | D | 1.665 | L | -5.54 | D | -5.07 | D | 0.926 | 3.378 | 22.9 | 0.996 | 0.980 | D | 0.867 | D | 0.934 | D | 0.490 | 0 | -1.33 | 0.991 | 0.144 | 1.000 | 0.995 | 9.984 | Deleterious |
| 1184 | 12 | 112477719 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112477719 | 112477719 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon8:c.A922G:p.N308D,PTPN11:NM_080601:exon8:c.A922G:p.N308D | 12q24.13 | 7.7e-05 | rs28933386 | 0.016 | D | 0.346 | B | 0.311 | B | 0.000 | D | 1 | A | 3.82 | H | -5.98 | D | -4.38 | D | 0.534 | 3.027 | 22.3 | 0.996 | 0.998 | D | 1.167 | D | 0.977 | D | 0.490 | 0 | 4.5 | 1.062 | 1.193 | 1.000 | 0.999 | 11.338 | Deleterious |
| 1185 | 12 | 112477720 | A | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112477720 | 112477720 | A | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon8:c.A923C:p.N308T,PTPN11:NM_080601:exon8:c.A923C:p.N308T | 12q24.13 | . | rs121918455 | 0.001 | D | 0.986 | D | 0.896 | P | 0.000 | D | 1 | D | 3.615 | H | -5.93 | D | -5.45 | D | 0.6 | 4.077 | 23.7 | 0.997 | 0.999 | D | 1.017 | D | 0.986 | D | 0.490 | 0 | 5.64 | 1.062 | 1.193 | 1.000 | 0.998 | 15.913 | Deleterious |
| 1186 | 12 | 112477720 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112477720 | 112477720 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon8:c.A923G:p.N308S,PTPN11:NM_080601:exon8:c.A923G:p.N308S | 12q24.13 | . | rs121918455 | 0.099 | T | 0.342 | B | 0.114 | B | 0.000 | D | 1 | A | 1.725 | L | -5.44 | D | -4.58 | D | 0.285 | 2.615 | 20.3 | 0.998 | 0.999 | D | 1.112 | D | 0.919 | D | 0.490 | 0 | 5.64 | 1.062 | 1.193 | 1.000 | 0.998 | 15.913 | Deleterious |
| 1187 | 12 | 112488444 | G | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112488444 | 112488444 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon12:c.G1381T:p.A461S | 12q24.13 | . | rs121918468 | 0.016 | D | 0.981 | D | 0.993 | D | 0.000 | D | 1 | D | 3.56 | H | -6.18 | D | -2.87 | D | 0.847 | 6.429 | 29.7 | 0.998 | 0.998 | D | 0.984 | D | 0.990 | D | 0.707 | 0 | 5.05 | 0.917 | 0.953 | 0.966 | 0.972 | 18.770 | Deleterious |
| 1188 | 12 | 112488444 | G | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112488444 | 112488444 | G | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon12:c.G1381A:p.A461T | 12q24.13 | . | rs121918468 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 3.45 | M | -6.19 | D | -3.83 | D | 0.901 | 6.971 | 33 | 0.999 | 0.997 | D | 0.994 | D | 0.990 | D | 0.707 | 0 | 5.05 | 0.917 | 0.953 | 0.966 | 0.972 | 18.770 | Deleterious |
| 1189 | 12 | 112488454 | G | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112488454 | 112488454 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon12:c.G1391C:p.G464A | 12q24.13 | . | rs121918469 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.86 | H | -6.33 | D | -5.75 | D | 0.982 | 6.350 | 29.4 | 0.998 | 0.999 | D | 0.906 | D | 0.994 | D | 0.563 | 0 | 5.05 | 0.917 | 0.953 | 1.000 | 1.000 | 18.770 | Deleterious |
| 1190 | 12 | 112488465 | A | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112488465 | 112488465 | A | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon12:c.A1402C:p.T468P | 12q24.13 | . | rs397507537 | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 4.585 | H | -6.13 | D | -5.58 | D | 0.986 | 6.186 | 28.6 | 0.997 | 0.998 | D | 0.931 | D | 0.993 | D | 0.707 | 0 | 5.05 | 1.062 | 1.088 | 0.984 | 0.983 | 15.091 | Deleterious |
| 1191 | 12 | 112488466 | C | T | Pathogenic/Likely pathogenic, not provided | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112488466 | 112488466 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon12:c.C1403T:p.T468M | 12q24.13 | . | rs121918457 | 0.0 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | A | 3.34 | M | -6.11 | D | -5.58 | D | 0.977 | 7.303 | 34 | 0.999 | 0.997 | D | 1.004 | D | 0.989 | D | 0.707 | 0 | 5.05 | 0.871 | 0.852 | 0.980 | 0.971 | 18.770 | Deleterious |
| 1192 | 12 | 112489047 | C | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489047 | 112489047 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1471T:p.P491S | 12q24.13 | . | rs397507539 | 0.111 | T | 0.12 | B | 0.033 | B | 0.000 | D | 1 | D | 1.34 | L | -1.69 | D | -1.42 | N | 0.942 | 5.388 | 26.0 | 0.996 | 0.983 | D | -0.387 | T | 0.433 | T | 0.722 | 0 | 5.13 | 0.871 | 0.935 | 1.000 | 0.997 | 18.936 | Tolerated |
| 1193 | 12 | 112489047 | C | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489047 | 112489047 | C | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1471A:p.P491T | 12q24.13 | . | rs397507539 | 0.045 | D | 0.61 | P | 0.266 | B | 0.000 | D | 1 | D | 2.235 | M | -1.69 | D | -2.09 | N | 0.98 | 5.237 | 25.6 | 0.998 | 0.987 | D | -0.034 | T | 0.532 | D | 0.722 | 0 | 5.13 | 0.871 | 0.935 | 1.000 | 0.997 | 18.936 | Deleterious |
| 1194 | 12 | 112489048 | C | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489048 | 112489048 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1472T:p.P491L | 12q24.13 | . | rs397507540 | 0.037 | D | 0.532 | P | 0.197 | B | 0.000 | D | 1 | D | 1.17 | L | -1.54 | D | -3.23 | D | 0.975 | 6.152 | 28.5 | 0.999 | 0.983 | D | -0.473 | T | 0.363 | T | 0.722 | 0 | 5.13 | 0.871 | 0.935 | 1.000 | 0.997 | 18.936 | Tolerated |
| 1195 | 12 | 112489048 | C | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489048 | 112489048 | C | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1472A:p.P491H | 12q24.13 | . | rs397507540 | 0.057 | T | 0.971 | D | 0.835 | P | 0.000 | D | 1 | D | 2.235 | M | -1.72 | D | -1.58 | N | 0.95 | 5.747 | 27.0 | 0.989 | 0.987 | D | 0.188 | D | 0.659 | D | 0.722 | 0 | 5.13 | 0.871 | 0.935 | 1.000 | 0.997 | 18.936 | Deleterious |
| 1196 | 12 | 112489068 | C | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489068 | 112489068 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1492T:p.R498W | 12q24.13 | . | rs397507541 | 0.0 | D | 0.999 | D | 0.963 | D | 0.000 | D | 1 | D | 4.855 | H | -2.88 | D | -7.62 | D | 0.994 | 6.429 | 29.7 | 0.999 | 0.918 | D | 1.032 | D | 0.929 | D | 0.722 | 0 | 4.11 | -0.058 | 0.935 | 0.995 | 0.998 | 12.820 | Deleterious |
| 1197 | 12 | 112489069 | G | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489069 | 112489069 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.G1493T:p.R498L | 12q24.13 | . | rs397507542 | 0.0 | D | 1.0 | D | 0.993 | D | 0.000 | D | 1 | D | 4.51 | H | -2.86 | D | -6.67 | D | 0.998 | 7.802 | 35 | 0.999 | 0.992 | D | 1.095 | D | 0.923 | D | 0.722 | 0 | 5.13 | 0.917 | 1.048 | 0.996 | 0.995 | 18.936 | Deleterious |
| 1198 | 12 | 112489078 | G | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489078 | 112489078 | G | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.G1502A:p.R501K | 12q24.13 | . | rs397507543 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.06 | H | -7.51 | D | -2.86 | D | 0.971 | 6.780 | 32 | 0.998 | 0.992 | D | 0.901 | D | 0.997 | D | 0.722 | 0 | 5.13 | 0.917 | 1.048 | 1.000 | 1.000 | 18.936 | Deleterious |
| 1199 | 12 | 112489080 | T | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489080 | 112489080 | T | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.T1504G:p.S502A | 12q24.13 | . | rs121918458 | 0.042 | D | 0.726 | P | 0.678 | P | 0.000 | D | 1 | D | 1.49 | L | -5.59 | D | -2.76 | D | 0.883 | 5.268 | 25.7 | 0.997 | 0.986 | D | 1.104 | D | 0.957 | D | 0.722 | 0 | 5.13 | 0.991 | 1.061 | 1.000 | 1.000 | 15.226 | Deleterious |
| 1200 | 12 | 112489080 | T | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489080 | 112489080 | T | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.T1504A:p.S502T | 12q24.13 | . | rs121918458 | 0.002 | D | 0.808 | P | 0.664 | P | 0.000 | D | 1 | A | 2.675 | M | -5.66 | D | -2.76 | D | 0.907 | 6.421 | 29.7 | 0.997 | 0.985 | D | 1.099 | D | 0.970 | D | 0.722 | 0 | 5.13 | 0.991 | 1.061 | 1.000 | 1.000 | 15.226 | Deleterious |
| 1201 | 12 | 112489081 | C | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489081 | 112489081 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1505T:p.S502L | 12q24.13 | . | rs397507544 | 0.001 | D | 1.0 | D | 0.986 | D | 0.000 | D | 1 | D | 2.245 | M | -5.61 | D | -5.52 | D | 0.964 | 7.533 | 34 | 0.999 | 0.984 | D | 1.092 | D | 0.977 | D | 0.722 | 0 | 5.13 | 0.871 | 0.935 | 1.000 | 1.000 | 18.936 | Deleterious |
| 1202 | 12 | 112489083 | G | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489083 | 112489083 | G | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.G1507A:p.G503R | 12q24.13 | . | rs397507545 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.45 | M | -5.83 | D | -7.26 | D | 0.979 | 7.084 | 33 | 0.999 | 0.992 | D | 1.018 | D | 0.988 | D | 0.722 | 0 | 5.13 | 0.917 | 1.048 | 1.000 | 1.000 | 18.936 | Deleterious |
| 1203 | 12 | 112489083 | G | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489083 | 112489083 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.G1507C:p.G503R | 12q24.13 | . | rs397507545 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.45 | M | -5.83 | D | -7.26 | D | 0.979 | 6.934 | 33 | 0.999 | 0.993 | D | 1.018 | D | 0.988 | D | 0.722 | 0 | 5.13 | 0.917 | 1.048 | 1.000 | 1.000 | 18.936 | Deleterious |
| 1204 | 12 | 112489086 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489086 | 112489086 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.A1510G:p.M504V | 12q24.13 | . | rs397507547 | 0.002 | D | 0.996 | D | 0.948 | D | 0.000 | D | 1 | D | 3.535 | H | -1.86 | D | -3.48 | D | 0.954 | 5.574 | 26.4 | 0.996 | 0.989 | D | 0.871 | D | 0.810 | D | 0.722 | 0 | 5.13 | 1.062 | 1.199 | 1.000 | 1.000 | 15.226 | Deleterious |
| 1205 | 12 | 112489093 | A | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489093 | 112489093 | A | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.A1517C:p.Q506P | 12q24.13 | . | rs397507548 | 0.001 | D | 0.869 | P | 0.825 | P | 0.000 | D | 1 | D | 3.58 | H | -2.08 | D | -5.51 | D | 0.992 | 6.081 | 28.2 | 0.994 | 0.990 | D | 0.886 | D | 0.823 | D | 0.722 | 0 | 5.13 | 1.062 | 1.199 | 1.000 | 1.000 | 15.226 | Deleterious |
| 1206 | 12 | 112489104 | C | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489104 | 112489104 | C | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.C1528G:p.Q510E | 12q24.13 | . | rs397507549 | 0.001 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1 | D | 4.02 | H | -6.36 | D | -2.73 | D | 0.983 | 5.986 | 27.8 | 0.995 | 0.988 | D | 0.946 | D | 0.993 | D | 0.722 | 0 | 5.13 | 0.871 | 0.935 | 1.000 | 1.000 | 18.936 | Deleterious |
| 1207 | 12 | 112489105 | A | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112489105 | 112489105 | A | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon13:c.A1529C:p.Q510P | 12q24.13 | . | rs121918470 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.48 | H | -6.39 | D | -5.22 | D | 0.996 | 5.846 | 27.3 | 0.995 | 0.990 | D | 0.921 | D | 0.994 | D | 0.722 | 0 | 5.13 | 1.062 | 1.199 | 1.000 | 1.000 | 15.226 | Deleterious |
| 1208 | 12 | 114385521 | G | A | Pathogenic/Likely pathogenic | TBX5 | . | . | . | . | . | . | . | . | . | . | 12 | 114385521 | 114385521 | G | A | exonic | TBX5 | . | nonsynonymous SNV | TBX5:NM_080717:exon6:c.G560T:p.R187L,TBX5:NM_000192:exon7:c.G710T:p.R237L,TBX5:NM_181486:exon7:c.G710T:p.R237L | 12q24.21 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.03 | M | -2.64 | D | -5.89 | D | 0.983 | 8.175 | 35 | 0.999 | 0.988 | D | 0.681 | D | 0.827 | D | 0.487 | 0 | 5.27 | 0.871 | 0.935 | 1.000 | 1.000 | 18.888 | Deleterious |
| 1209 | 12 | 120727115 | C | T | Pathogenic/Likely pathogenic | ACADS | . | . | . | . | . | . | . | . | . | . | 12 | 120727115 | 120727115 | C | T | exonic | ACADS | . | nonsynonymous SNV | ACADS:NM_000017:exon2:c.C136T:p.R46W,ACADS:NM_001302554:exon2:c.C136T:p.R46W | 12q24.31 | . | rs121908003 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | A | 4.47 | H | -7.06 | D | -6.78 | D | 0.886 | 7.377 | 34 | 0.999 | 0.785 | D | 0.940 | D | 0.995 | D | 0.732 | 0 | 3.56 | 0.871 | 0.848 | 0.999 | 1.000 | 11.766 | Deleterious |
| 1210 | 12 | 120737094 | C | T | Pathogenic | ACADS | . | . | . | . | . | . | . | . | . | . | 12 | 120737094 | 120737094 | C | T | exonic | ACADS | . | nonsynonymous SNV | ACADS:NM_000017:exon3:c.C319T:p.R107C,ACADS:NM_001302554:exon3:c.C319T:p.R107C | 12q24.31 | 0.0008 | rs61732144 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 4.365 | H | -6.93 | D | -7.78 | D | 0.929 | 7.242 | 34 | 0.999 | 0.818 | D | 0.930 | D | 0.995 | D | 0.706 | 0 | 3.88 | 0.871 | 0.852 | 0.992 | 0.955 | 13.511 | Deleterious |
| 1211 | 12 | 120737893 | T | C | Pathogenic/Likely pathogenic | ACADS | . | . | . | . | . | . | . | . | . | . | 12 | 120737893 | 120737893 | T | C | exonic | ACADS | . | nonsynonymous SNV | ACADS:NM_000017:exon5:c.T529C:p.W177R | 12q24.31 | 0.0023 | rs57443665 | 0.0 | D | 0.995 | D | 0.978 | D | 0.000 | D | 1 | D | 3.86 | H | -3.89 | D | -8.76 | D | 0.989 | 5.153 | 25.4 | 0.995 | 0.956 | D | 0.924 | D | 0.930 | D | 0.706 | 0 | 5.16 | 0.991 | 0.964 | 0.848 | 0.534 | 14.980 | Deleterious |
| 1212 | 12 | 120739347 | C | T | Pathogenic/Likely pathogenic | ACADS | . | . | . | . | . | . | . | . | . | . | 12 | 120739347 | 120739347 | C | T | exonic | ACADS | . | nonsynonymous SNV | ACADS:NM_000017:exon10:c.C1138T:p.R380W,ACADS:NM_001302554:exon10:c.C1126T:p.R376W | 12q24.31 | . | rs28940875 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.935 | H | -4.37 | D | -7.82 | D | 0.958 | 6.202 | 28.7 | 0.999 | 0.893 | D | 1.091 | D | 0.964 | D | 0.718 | 0 | 3.84 | 0.871 | 0.048 | 0.955 | 0.925 | 14.290 | Deleterious |
| 1213 | 13 | 20188965 | A | G | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20188965 | 20188965 | A | G | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.A617C:p.N206T | 13q12.11 | . | . | 0.095 | T | 1.0 | D | 0.993 | D | 0.000 | D | 1 | D | 2.2 | M | -3.83 | D | -4.69 | D | 0.544 | 2.665 | 20.6 | 0.991 | 0.954 | D | 0.959 | D | 0.903 | D | 0.549 | 0 | 4.45 | 0.991 | 0.114 | 0.998 | 0.448 | 13.048 | Deleterious |
| 1214 | 13 | 20189031 | G | C | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189031 | 20189031 | G | C | exonic | GJB2 | . | synonymous SNV | GJB2:NM_004004:exon2:c.G551G:p.R184R | 13q12.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1215 | 13 | 20189155 | C | T | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189155 | 20189155 | C | T | exonic | GJB2 | . | synonymous SNV | GJB2:NM_004004:exon2:c.C427A:p.R143R | 13q12.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1216 | 13 | 20189166 | G | A | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189166 | 20189166 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G416T:p.S139I | 13q12.11 | . | . | 0.002 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.43 | M | -4.6 | D | -5.49 | D | 0.938 | 6.639 | 32 | 0.997 | 0.972 | D | 1.102 | D | 0.957 | D | 0.677 | 0 | 5.47 | 0.871 | 0.852 | 1.000 | 0.999 | 19.695 | Deleterious |
| 1217 | 13 | 20189212 | C | T | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189212 | 20189212 | C | T | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.C370A:p.Q124K | 13q12.11 | . | . | 0.671 | T | 0.0 | B | 0.001 | B | 0.000 | D | 0.793 | N | 0.755 | N | -4.33 | D | -0.5 | N | 0.144 | -0.994 | 0.016 | 0.665 | 0.507 | D | 0.086 | D | 0.755 | D | 0.765 | 0 | 3.65 | 0.917 | 0.953 | 0.993 | 0.938 | 10.365 | Deleterious |
| 1218 | 13 | 20189217 | A | T | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189217 | 20189217 | A | T | exonic | GJB2 | . | synonymous SNV | GJB2:NM_004004:exon2:c.A365A:p.K122K | 13q12.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1219 | 13 | 20189284 | C | T | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189284 | 20189284 | C | T | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.C298A:p.H100N | 13q12.11 | . | . | 0.168 | T | 0.632 | P | 0.318 | B | 0.000 | D | 1.000 | D | 1.74 | L | -5.36 | D | -2.51 | D | 0.445 | 1.630 | 14.02 | 0.991 | 0.976 | D | 1.089 | D | 0.937 | D | 0.598 | 0 | 5.33 | 0.917 | 0.953 | 0.997 | 0.948 | 19.382 | Deleterious |
| 1220 | 13 | 20189299 | G | A | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189299 | 20189299 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G283T:p.V95L | 13q12.11 | . | . | 0.002 | D | 0.081 | B | 0.225 | B | 0.001 | N | 1 | D | 3.3 | M | -5.54 | D | -2.84 | D | 0.705 | 5.108 | 25.3 | 0.987 | 0.945 | D | 1.101 | D | 0.962 | D | 0.598 | 0 | 4.24 | 0.033 | 0.852 | 0.985 | 0.996 | 12.702 | Deleterious |
| 1221 | 13 | 20189313 | T | C | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189313 | 20189313 | T | C | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.T269G:p.L90R | 13q12.11 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.215 | M | -5.63 | D | -5.68 | D | 0.996 | 5.320 | 25.8 | 0.998 | 0.981 | D | 1.049 | D | 0.983 | D | 0.598 | 0 | 5.33 | 1.062 | 1.088 | 0.981 | 0.887 | 15.593 | Deleterious |
| 1222 | 13 | 20189332 | G | T | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189332 | 20189332 | G | T | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G250A:p.V84M | 13q12.11 | . | rs104894409 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.97 | M | -5.97 | D | -3.0 | D | 0.926 | 6.682 | 32 | 0.999 | 0.972 | D | 1.046 | D | 0.986 | D | 0.598 | 0 | 5.33 | 0.871 | 0.852 | 0.989 | 0.907 | 19.382 | Deleterious |
| 1223 | 13 | 20189332 | G | C | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189332 | 20189332 | G | C | exonic | GJB2 | . | synonymous SNV | GJB2:NM_004004:exon2:c.G250G:p.V84V | 13q12.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1224 | 13 | 20189352 | G | A | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189352 | 20189352 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G230T:p.W77L | 13q12.11 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.655 | H | -6.04 | D | -12.96 | D | 0.947 | 6.645 | 32 | 0.987 | 0.976 | D | 1.006 | D | 0.989 | D | 0.598 | 0 | 5.33 | 0.871 | 0.852 | 0.998 | 0.984 | 19.382 | Deleterious |
| 1225 | 13 | 20189353 | T | C | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189353 | 20189353 | T | C | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.T229G:p.W77G | 13q12.11 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.655 | H | -6.12 | D | -12.96 | D | 0.98 | 5.358 | 25.9 | 0.980 | 0.980 | D | 0.983 | D | 0.990 | D | 0.598 | 0 | 5.18 | 1.062 | 1.088 | 0.997 | 0.979 | 15.329 | Deleterious |
| 1226 | 13 | 20189358 | G | A | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189358 | 20189358 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G224T:p.R75L | 13q12.11 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.64 | H | -5.99 | D | -7.0 | D | 0.987 | 7.443 | 34 | 0.999 | 0.976 | D | 1.003 | D | 0.989 | D | 0.598 | 0 | 5.18 | 0.871 | 0.852 | 0.996 | 0.990 | 19.059 | Deleterious |
| 1227 | 13 | 20189413 | C | T | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189413 | 20189413 | C | T | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.C169A:p.Q57K | 13q12.11 | . | . | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.605 | H | -5.74 | D | -3.96 | D | 0.919 | 4.904 | 24.9 | 0.995 | 0.985 | D | 1.032 | D | 0.986 | D | 0.765 | 0 | 5.32 | 0.917 | 0.953 | 0.904 | 0.548 | 19.372 | Deleterious |
| 1228 | 13 | 20189443 | G | T | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189443 | 20189443 | G | T | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G139A:p.E47K | 13q12.11 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.62 | H | -6.06 | D | -3.86 | D | 0.995 | 6.366 | 29.4 | 0.999 | 0.968 | D | 1.003 | D | 0.989 | D | 0.677 | 0 | 5.21 | 0.871 | 0.852 | 1.000 | 0.908 | 19.121 | Deleterious |
| 1229 | 13 | 20189451 | G | A | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189451 | 20189451 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G131T:p.W44L | 13q12.11 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.365 | M | -5.65 | D | -12.83 | D | 0.901 | 6.511 | 31 | 0.988 | 0.974 | D | 1.043 | D | 0.985 | D | 0.598 | 0 | 5.21 | 0.871 | 0.852 | 1.000 | 0.994 | 19.121 | Deleterious |
| 1230 | 13 | 20189473 | G | A | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189473 | 20189473 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G109T:p.V37F | 13q12.11 | . | rs72474224 | 0.129 | T | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.685 | M | -5.51 | D | -4.29 | D | 0.921 | 4.158 | 23.8 | 0.986 | 0.968 | D | 1.095 | D | 0.975 | D | 0.534 | 0 | 5.21 | 0.871 | 0.852 | 0.996 | 0.515 | 19.121 | Deleterious |
| 1231 | 13 | 20189511 | G | A | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189511 | 20189511 | G | A | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G71T:p.W24L | 13q12.11 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.46 | M | -5.84 | D | -12.72 | D | 0.897 | 5.282 | 25.7 | 0.987 | 0.976 | D | 1.071 | D | 0.982 | D | 0.534 | 0 | 5.21 | 0.871 | 0.852 | 0.998 | 0.977 | 19.121 | Deleterious |
| 1232 | 13 | 20189538 | A | C | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189538 | 20189538 | A | C | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.A44G:p.K15R | 13q12.11 | . | . | 0.221 | T | 0.003 | B | 0.004 | B | 0.000 | D | 0.980 | D | 0.095 | N | -5.44 | D | -1.22 | N | 0.193 | -0.196 | 1.119 | 0.978 | 0.751 | D | 0.570 | D | 0.839 | D | 0.598 | 0 | 5.36 | 0.991 | 0.964 | 0.999 | 0.931 | 8.200 | Deleterious |
| 1233 | 13 | 20189547 | G | T | Pathogenic/Likely pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20189547 | 20189547 | G | T | exonic | GJB2 | . | nonsynonymous SNV | GJB2:NM_004004:exon2:c.G35A:p.G12D | 13q12.11 | . | rs1801002 | 0.03 | D | 1.0 | D | 0.993 | D | 0.000 | D | 1 | D | 2.2 | M | -5.38 | D | -6.35 | D | 0.979 | 3.761 | 23.3 | 0.998 | 0.977 | D | 1.101 | D | 0.971 | D | 0.598 | 0 | 5.36 | 0.871 | 0.852 | 0.999 | 0.591 | 19.444 | Deleterious |
| 1234 | 13 | 20192782 | G | A | Pathogenic | GJB2 | . | . | . | . | . | . | . | . | . | . | 13 | 20192782 | 20192782 | G | A | splicing | GJB2 | . | . | . | 13q12.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1235 | 13 | 20223450 | G | A | Pathogenic | GJB6 | . | . | . | . | . | . | . | . | . | . | 13 | 20223450 | 20223450 | G | A | exonic | GJB6 | . | nonsynonymous SNV | GJB6:NM_001110221:exon3:c.G31T:p.G11W,GJB6:NM_006783:exon3:c.G31T:p.G11W,GJB6:NM_001110220:exon4:c.G31T:p.G11W,GJB6:NM_001110219:exon5:c.G31T:p.G11W | 13q12.11 | . | . | 0.001 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1.000 | D | 1.87 | L | -5.44 | D | -4.0 | D | 0.764 | 5.322 | 25.8 | 0.993 | 0.975 | D | 1.083 | D | 0.962 | D | 0.487 | 0 | 5.38 | 0.871 | 0.935 | 0.772 | 0.027 | 12.490 | Deleterious |
| 1236 | 13 | 23324452 | G | A | Pathogenic | SGCG | . | . | . | . | . | . | . | . | . | . | 13 | 23324452 | 23324452 | G | A | exonic | SGCG | . | nonsynonymous SNV | SGCG:NM_000231:exon8:c.G787A:p.E263K | 13q12.12 | . | rs104894423 | 0.003 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 2.83 | M | -3.32 | D | -2.57 | D | 0.981 | 6.670 | 32 | 0.999 | 0.957 | D | 0.841 | D | 0.892 | D | 0.601 | 0 | 5.28 | 0.917 | 0.953 | 0.998 | 0.914 | 18.911 | Deleterious |
| 1237 | 13 | 31269278 | G | A | Pathogenic | B3GLCT | . | . | . | . | . | . | . | . | . | . | 13 | 31269278 | 31269278 | G | A | splicing | B3GLCT | NM_194318:exon8:c.660+1G>A | . | . | 13q12.3 | 0.0005 | rs80338851 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 6.130 | 28.4 | 0.996 | 0.993 | D | . | . | . | . | 0.075 | 0 | 6.08 | 0.917 | 1.048 | 0.968 | 0.993 | 20.663 | Deleterious (FATHMM) |
| 1238 | 13 | 32316462 | T | G | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32316462 | 32316462 | T | G | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon2:c.T2G:p.M1R | 13q13.1 | . | rs80358547 | 0.0 | D | 0.998 | D | 0.994 | D | 0.000 | D | 1 | D | . | . | 5.51 | T | -1.44 | N | 0.762 | 4.760 | 24.7 | 0.980 | 0.888 | D | -1.061 | T | 0.013 | T | 0.267 | 1 | 5.27 | 0.991 | 0.913 | 0.244 | 0.898 | 12.847 | Tolerated |
| 1239 | 13 | 32316463 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32316463 | 32316463 | G | A | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon2:c.G3A:p.M1I | 13q13.1 | . | rs80358650 | 0.0 | D | 0.998 | D | 0.991 | D | 0.000 | D | 1 | D | . | . | 5.61 | T | -0.96 | N | 0.917 | 3.650 | 23.2 | 0.997 | 0.902 | D | -1.084 | T | 0.015 | T | 0.267 | 1 | 5.27 | 0.917 | 0.902 | 0.229 | 0.880 | 15.961 | Tolerated |
| 1240 | 13 | 32316528 | G | C | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32316528 | 32316528 | G | C | splicing | BRCA2 | NM_000059:exon2:c.67+1G>C | . | . | 13q13.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.719 | 24.6 | 0.995 | 0.903 | D | . | . | . | . | 0.120 | 0 | 5.1 | 0.917 | 0.902 | 0.849 | 0.948 | 15.580 | Deleterious (FATHMM) |
| 1241 | 13 | 32316528 | G | T | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32316528 | 32316528 | G | T | splicing | BRCA2 | NM_000059:exon2:c.67+1G>T | . | . | 13q13.1 | . | rs81002796 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.767 | 24.7 | 0.995 | 0.899 | D | . | . | . | . | 0.120 | 0 | 5.1 | 0.917 | 0.902 | 0.849 | 0.948 | 15.580 | Deleterious (FATHMM) |
| 1242 | 13 | 32316528 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32316528 | 32316528 | G | A | splicing | BRCA2 | NM_000059:exon2:c.67+1G>A | . | . | 13q13.1 | . | rs81002796 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.204 | 25.5 | 0.994 | 0.887 | D | . | . | . | . | 0.120 | 0 | 5.1 | 0.917 | 0.902 | 0.849 | 0.948 | 15.580 | Deleterious (FATHMM) |
| 1243 | 13 | 32316529 | T | C | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32316529 | 32316529 | T | C | splicing | BRCA2 | NM_000059:exon2:c.67+2T>C | . | . | 13q13.1 | . | rs81002885 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.426 | 24.2 | 0.991 | 0.855 | D | . | . | . | . | 0.079 | 0 | 5.1 | 0.991 | 0.913 | 0.844 | 0.917 | 12.536 | Deleterious (FATHMM) |
| 1244 | 13 | 32325185 | G | A | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32325185 | 32325185 | G | A | splicing | BRCA2 | NM_000059:exon4:c.425+1G>A | . | . | 13q13.1 | . | rs587782590 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.723 | 26.9 | 0.994 | 0.917 | D | . | . | . | . | 0.164 | 0 | 5.84 | 0.917 | 0.953 | 1.000 | 0.999 | 15.639 | Deleterious (FATHMM) |
| 1245 | 13 | 32326099 | A | G | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326099 | 32326099 | A | G | splicing | BRCA2 | NM_000059:exon5:c.426-2A>G | . | . | 13q13.1 | . | rs398122779 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.204 | 22.7 | 0.983 | 0.969 | D | . | . | . | . | 0.164 | 0 | 4.91 | 1.006 | 0.822 | 0.522 | 0.746 | 14.539 | Deleterious (FATHMM) |
| 1246 | 13 | 32326150 | G | A | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326150 | 32326150 | G | A | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon5:c.G475A:p.V159M | 13q13.1 | . | rs80358702 | 0.011 | D | 1.0 | D | 0.986 | D | 0.044 | N | 1 | D | 1.905 | M | 5.67 | T | -0.76 | N | 0.668 | 4.788 | 24.7 | 0.998 | 0.745 | D | -0.928 | T | 0.011 | T | 0.651 | 0 | 4.06 | 0.868 | 0.725 | 0.537 | 0.977 | 9.443 | Tolerated |
| 1247 | 13 | 32326151 | G | T | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326151 | 32326151 | G | T | splicing | BRCA2 | NM_000059:exon5:c.475+1G>T | . | . | 13q13.1 | . | rs81002797 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.256 | 23.9 | 0.994 | 0.970 | D | . | . | . | . | 0.106 | 0 | 4.91 | 0.868 | 0.725 | 0.576 | 0.978 | 18.093 | Deleterious (FATHMM) |
| 1248 | 13 | 32326497 | A | G | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326497 | 32326497 | A | G | splicing | BRCA2 | NM_000059:exon7:c.517-2A>G | . | . | 13q13.1 | . | rs81002858 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.147 | 22.6 | 0.963 | 0.972 | D | . | . | . | . | 0.106 | 0 | 4.3 | 1.003 | 1.083 | 0.809 | 0.549 | 7.534 | Deleterious (FATHMM) |
| 1249 | 13 | 32326498 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326498 | 32326498 | G | A | splicing | BRCA2 | NM_000059:exon7:c.517-1G>A | . | . | 13q13.1 | . | rs81002849 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.178 | 23.8 | 0.995 | 0.990 | D | . | . | . | . | 0.106 | 0 | 5.17 | 0.866 | 0.949 | 0.862 | 0.650 | 15.937 | Deleterious (FATHMM) |
| 1250 | 13 | 32326613 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326613 | 32326613 | G | A | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon7:c.G631A:p.V211I | 13q13.1 | . | rs80358871 | 0.036 | D | 0.734 | P | 0.257 | B | 0.908 | N | 0.975 | N | 1.32 | L | 5.65 | T | -0.25 | N | 0.834 | 5.402 | 26.0 | 0.998 | 0.917 | D | -0.833 | T | 0.005 | T | 0.651 | 0 | 5.65 | 0.917 | 0.949 | 0.996 | 0.999 | 12.985 | Tolerated |
| 1251 | 13 | 32326614 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326614 | 32326614 | G | A | splicing | BRCA2 | NM_000059:exon7:c.631+1G>A | . | . | 13q13.1 | . | rs81002897 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 5.552 | 26.4 | 0.995 | 0.993 | D | . | . | . | . | 0.099 | 0 | 5.65 | 0.917 | 0.949 | 0.991 | 0.997 | 19.715 | Deleterious (FATHMM) |
| 1252 | 13 | 32326615 | T | G | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32326615 | 32326615 | T | G | splicing | BRCA2 | NM_000059:exon7:c.631+2T>G | . | . | 13q13.1 | . | rs81002899 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 4.456 | 24.2 | 0.978 | 0.988 | D | . | . | . | . | 0.099 | 0 | 4.46 | 0.991 | 0.961 | 0.980 | 0.993 | 11.434 | Deleterious (FATHMM) |
| 1253 | 13 | 32329441 | A | G | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32329441 | 32329441 | A | G | splicing | BRCA2 | NM_000059:exon8:c.632-2A>G | . | . | 13q13.1 | . | rs397507842 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.287 | 22.8 | 0.987 | 0.968 | D | . | . | . | . | 0.106 | 0 | 5.54 | 1.062 | 1.178 | 0.526 | 0.966 | 12.350 | Deleterious (FATHMM) |
| 1254 | 13 | 32331031 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32331031 | 32331031 | G | A | splicing | BRCA2 | NM_000059:exon9:c.793+1G>A | . | . | 13q13.1 | . | rs81002846 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.473 | 23.0 | 0.983 | 0.894 | D | . | . | . | . | 0.106 | 0 | 4.47 | 0.917 | 0.998 | 0.145 | 0.066 | 15.826 | Deleterious (FATHMM) |
| 1255 | 13 | 32333388 | G | A | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32333388 | 32333388 | G | A | splicing | BRCA2 | NM_000059:exon10:c.1909+1G>A | . | . | 13q13.1 | . | rs587781629 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.406 | 24.1 | 0.991 | 0.990 | D | . | . | . | . | 0.106 | 0 | 5.37 | 0.917 | 1.048 | 0.932 | 0.905 | 16.619 | Deleterious (FATHMM) |
| 1256 | 13 | 32346896 | G | T | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32346896 | 32346896 | G | T | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon13:c.G7007T:p.R2336L | 13q13.1 | . | rs28897743 | 0.092 | T | 0.012 | B | 0.005 | B | 0.781 | N | 1 | D | 1.1 | L | -1.06 | T | -0.01 | N | 0.651 | 3.426 | 23.0 | 0.987 | 0.859 | D | -0.685 | T | 0.340 | T | 0.615 | 0 | 5.03 | 0.917 | 1.030 | 0.882 | 0.931 | 13.860 | Tolerated |
| 1257 | 13 | 32346896 | G | C | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32346896 | 32346896 | G | C | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon13:c.G7007C:p.R2336P | 13q13.1 | . | rs28897743 | 0.238 | T | 0.261 | B | 0.044 | B | 0.781 | N | 1 | D | 1.1 | L | -1.1 | T | -0.4 | N | 0.877 | 4.481 | 24.2 | 0.946 | 0.900 | D | -0.712 | T | 0.314 | T | 0.615 | 0 | 5.03 | 0.917 | 1.030 | 0.882 | 0.931 | 13.860 | Tolerated |
| 1258 | 13 | 32354860 | G | A | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32354860 | 32354860 | G | A | splicing | BRCA2 | NM_000059:exon14:c.7008-1G>A | . | . | 13q13.1 | . | rs786204280 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.072 | 23.7 | 0.991 | 0.975 | D | . | . | . | . | 0.099 | 0 | 5.66 | 0.917 | 1.048 | 0.548 | 0.092 | 18.303 | Deleterious (FATHMM) |
| 1259 | 13 | 32356611 | T | G | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32356611 | 32356611 | T | G | splicing | BRCA2 | NM_000059:exon15:c.7617+2T>G | . | . | 13q13.1 | . | rs81002843 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.878 | 24.9 | 0.992 | 0.982 | D | . | . | . | . | 0.099 | 0 | 5.38 | 0.991 | 1.061 | 0.869 | 0.852 | 15.692 | Deleterious (FATHMM) |
| 1260 | 13 | 32357930 | G | A | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32357930 | 32357930 | G | A | splicing | BRCA2 | NM_000059:exon16:c.7805+1G>A | . | . | 13q13.1 | . | rs81002809 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.666 | 26.7 | 0.996 | 0.991 | D | . | . | . | . | 0.164 | 0 | 5.15 | 0.917 | 0.902 | 0.864 | 0.958 | 18.628 | Deleterious (FATHMM) |
| 1261 | 13 | 32362521 | A | G | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32362521 | 32362521 | A | G | splicing | BRCA2 | NM_000059:exon17:c.7806-2A>G | . | . | 13q13.1 | . | rs81002836 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.964 | 25.1 | 0.995 | 0.996 | D | . | . | . | . | 0.106 | 0 | 5.66 | 1.062 | 1.199 | 0.970 | 0.850 | 16.182 | Deleterious (FATHMM) |
| 1262 | 13 | 32362694 | G | A | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32362694 | 32362694 | G | A | splicing | BRCA2 | NM_000059:exon17:c.7976+1G>A | . | . | 13q13.1 | . | rs81002873 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.975 | 27.7 | 0.996 | 0.981 | D | . | . | . | . | 0.156 | 0 | 5.66 | 0.917 | 1.048 | 0.965 | 1.000 | 20.104 | Deleterious (FATHMM) |
| 1263 | 13 | 32363178 | G | C | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32363178 | 32363178 | G | C | splicing | BRCA2 | NM_000059:exon18:c.7977-1G>C | . | . | 13q13.1 | . | rs81002874 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.871 | 24.9 | 0.996 | 0.994 | D | . | . | . | . | 0.106 | 0 | 4.93 | 0.917 | 0.998 | 0.992 | 0.950 | 18.510 | Deleterious (FATHMM) |
| 1264 | 13 | 32363225 | A | G | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32363225 | 32363225 | A | G | exonic | BRCA2 | . | nonsynonymous SNV | BRCA2:NM_000059:exon18:c.A8023G:p.I2675V | 13q13.1 | . | rs397507954 | 0.0 | D | 0.999 | D | 0.995 | D | 0.000 | D | 1.000 | D | 2.19 | M | -1.95 | D | -0.3 | N | 0.66 | 5.346 | 25.9 | 0.999 | 0.992 | D | 0.579 | D | 0.726 | D | 0.651 | 0 | 4.93 | 1.062 | 1.140 | 1.000 | 1.000 | 14.879 | Deleterious |
| 1265 | 13 | 32363534 | G | A | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32363534 | 32363534 | G | A | splicing | BRCA2 | NM_000059:exon18:c.8331+1G>A | . | . | 13q13.1 | . | rs81002837 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.721 | 26.9 | 0.996 | 0.997 | D | . | . | . | . | 0.322 | 0 | 5.68 | 0.917 | 1.048 | 0.984 | 1.000 | 19.789 | Deleterious (FATHMM) |
| 1266 | 13 | 32370400 | A | G | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32370400 | 32370400 | A | G | splicing | BRCA2 | NM_000059:exon19:c.8332-2A>G | . | . | 13q13.1 | . | rs587782774 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.125 | 25.4 | 0.995 | 0.998 | D | . | . | . | . | 0.164 | 0 | 5.33 | 1.062 | 1.082 | 0.847 | 0.992 | 15.312 | Deleterious (FATHMM) |
| 1267 | 13 | 32370401 | G | T | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32370401 | 32370401 | G | T | splicing | BRCA2 | NM_000059:exon19:c.8332-1G>T | . | . | 13q13.1 | . | rs397507979 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.413 | 26.0 | 0.995 | 0.999 | D | . | . | . | . | 0.164 | 0 | 5.33 | 0.917 | 0.948 | 0.905 | 0.996 | 19.029 | Deleterious (FATHMM) |
| 1268 | 13 | 32370955 | G | A | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32370955 | 32370955 | G | A | splicing | BRCA2 | NM_000059:exon20:c.8488-1G>A | . | . | 13q13.1 | . | rs397507404 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.363 | 25.9 | 0.995 | 0.987 | D | . | . | . | . | 0.156 | 0 | 5.1 | 0.868 | 0.729 | 0.993 | 0.923 | 18.522 | Deleterious (FATHMM) |
| 1269 | 13 | 32376669 | G | A | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32376669 | 32376669 | G | A | splicing | BRCA2 | NM_000059:exon21:c.8633-1G>A | . | . | 13q13.1 | . | rs398122711 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.967 | 23.6 | 0.992 | 0.968 | D | . | . | . | . | 0.156 | 0 | 5.32 | 0.917 | 0.865 | 0.103 | 0.267 | 16.157 | Deleterious (FATHMM) |
| 1270 | 13 | 32376791 | G | A | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32376791 | 32376791 | G | A | exonic | BRCA2 | . | synonymous SNV | BRCA2:NM_000059:exon21:c.G8754A:p.E2918E | 13q13.1 | . | rs80359803 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1271 | 13 | 32376792 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32376792 | 32376792 | G | A | splicing | BRCA2 | NM_000059:exon21:c.8754+1G>A | . | . | 13q13.1 | . | rs397508006 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.544 | 26.4 | 0.996 | 0.994 | D | . | . | . | . | 0.295 | 0 | 5.31 | 0.913 | 0.863 | 0.963 | 0.976 | 18.986 | Deleterious (FATHMM) |
| 1272 | 13 | 32379913 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32379913 | 32379913 | G | A | exonic | BRCA2 | . | synonymous SNV | BRCA2:NM_000059:exon23:c.G9117A:p.P3039P | 13q13.1 | . | rs28897756 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1273 | 13 | 32380005 | A | G | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32380005 | 32380005 | A | G | splicing | BRCA2 | NM_000059:exon24:c.9118-2A>G | . | . | 13q13.1 | . | rs81002862 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.694 | 23.3 | 0.983 | 0.994 | D | . | . | . | . | 0.164 | 0 | 5.51 | 1.062 | 1.199 | 0.027 | 0.320 | 15.915 | Deleterious (FATHMM) |
| 1274 | 13 | 32380006 | G | A | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32380006 | 32380006 | G | A | splicing | BRCA2 | NM_000059:exon24:c.9118-1G>A | . | . | 13q13.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.191 | 23.8 | 0.991 | 0.987 | D | . | . | . | . | 0.164 | 0 | 5.51 | 0.917 | 1.048 | 0.028 | 0.388 | 19.776 | Deleterious (FATHMM) |
| 1275 | 13 | 32394688 | G | C | Pathogenic/Likely pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32394688 | 32394688 | G | C | splicing | BRCA2 | NM_000059:exon25:c.9257-1G>C | . | . | 13q13.1 | . | rs81002889 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.576 | 23.2 | 0.992 | 0.981 | D | . | . | . | . | 0.164 | 0 | 5.9 | 0.917 | 1.048 | 0.777 | 0.870 | 18.453 | Deleterious (FATHMM) |
| 1276 | 13 | 32396896 | A | C | Pathogenic/Likely pathogenic, not provided | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32396896 | 32396896 | A | C | splicing | BRCA2 | NM_000059:exon26:c.9502-2A>C | . | . | 13q13.1 | . | rs81002868 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.874 | 23.5 | 0.982 | 0.989 | D | . | . | . | . | 0.156 | 0 | 5.94 | 1.062 | 1.199 | 0.969 | 0.997 | 14.136 | Deleterious (FATHMM) |
| 1277 | 13 | 32397045 | G | C | Pathogenic | BRCA2 | . | . | . | . | . | . | . | . | . | . | 13 | 32397045 | 32397045 | G | C | splicing | BRCA2 | NM_000059:exon26:c.9648+1G>C | . | . | 13q13.1 | . | rs730881573 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.769 | 24.7 | 0.994 | 0.991 | D | . | . | . | . | 0.295 | 0 | 5.73 | 0.917 | 0.998 | 0.648 | 0.987 | 17.047 | Deleterious (FATHMM) |
| 1278 | 13 | 50945445 | G | A | Pathogenic | RNASEH2B | . | . | . | . | . | . | . | . | . | . | 13 | 50945445 | 50945445 | G | A | exonic | RNASEH2B | . | nonsynonymous SNV | RNASEH2B:NM_001142279:exon7:c.G529A:p.A177T,RNASEH2B:NM_024570:exon7:c.G529A:p.A177T | 13q14.3 | 0.0020 | rs75184679 | 0.234 | T | 0.992 | D | 0.886 | P | 0.000 | D | 0.934 | A | 2.67 | M | -3.97 | D | -1.7 | N | 0.773 | 2.562 | 19.86 | 0.997 | 0.819 | D | 0.949 | D | 0.921 | D | 0.732 | 0 | 5.78 | 0.917 | 1.048 | 0.132 | 0.104 | 17.508 | Deleterious |
| 1279 | 13 | 51937342 | C | T | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51937342 | 51937342 | C | T | exonic | ATP7B | . | synonymous SNV | ATP7B:NM_001005918:exon15:c.C3334A:p.R1112R,ATP7B:NM_000053:exon19:c.C3955A:p.R1319R,ATP7B:NM_001243182:exon20:c.C3622A:p.R1208R | 13q14.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1280 | 13 | 51939091 | C | T | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51939091 | 51939091 | C | T | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_001005918:exon13:c.C3038A:p.T1013K,ATP7B:NM_000053:exon17:c.C3659A:p.T1220K,ATP7B:NM_001243182:exon18:c.C3326A:p.T1109K | 13q14.3 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.86 | H | -4.7 | D | -5.17 | D | 0.986 | 7.337 | 34 | 0.993 | 0.991 | D | 1.077 | D | 0.974 | D | 0.737 | 0 | 5.15 | 0.917 | 1.048 | 0.989 | 0.963 | 18.811 | Deleterious |
| 1281 | 13 | 51944145 | C | A | Pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51944145 | 51944145 | C | A | exonic | ATP7B | . | synonymous SNV | ATP7B:NM_001005918:exon10:c.C2586T:p.H862H,ATP7B:NM_000053:exon14:c.C3207T:p.H1069H,ATP7B:NM_001243182:exon15:c.C2874T:p.H958H | 13q14.3 | . | rs76151636 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1282 | 13 | 51946369 | C | T | Pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51946369 | 51946369 | C | T | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_001005918:exon9:c.C2354A:p.P785H,ATP7B:NM_000053:exon13:c.C2975A:p.P992H,ATP7B:NM_001243182:exon14:c.C2642A:p.P881H | 13q14.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.47 | H | -2.37 | D | -7.85 | D | 0.98 | 5.991 | 27.8 | 0.995 | 0.991 | D | 1.087 | D | 0.924 | D | 0.554 | 0 | 5.15 | 0.917 | 1.048 | 0.994 | 0.571 | 18.812 | Deleterious |
| 1283 | 13 | 51946414 | C | T | Pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51946414 | 51946414 | C | T | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_001005918:exon9:c.C2309A:p.T770K,ATP7B:NM_000053:exon13:c.C2930A:p.T977K,ATP7B:NM_001243182:exon14:c.C2597A:p.T866K | 13q14.3 | . | . | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.22 | M | -2.73 | D | -4.73 | D | 0.967 | 6.776 | 32 | 0.986 | 0.991 | D | 0.976 | D | 0.884 | D | 0.638 | 0 | 5.15 | 0.917 | 1.048 | 0.985 | 0.985 | 18.812 | Deleterious |
| 1284 | 13 | 51950132 | G | A | Pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51950132 | 51950132 | G | A | exonic | ATP7B | . | stopgain | ATP7B:NM_001005918:exon8:c.G2119T:p.G707X,ATP7B:NM_000053:exon11:c.G2605T:p.G869X,ATP7B:NM_001243182:exon12:c.G2272T:p.G758X | 13q14.3 | . | rs191312027 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.749 | 43 | 0.993 | 0.991 | D | . | . | . | . | 0.693 | 0 | 5.69 | 0.871 | 0.935 | 0.987 | 0.093 | 19.873 | Deleterious (FATHMM) |
| 1285 | 13 | 51950328 | C | T | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51950328 | 51950328 | C | T | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_001005918:exon7:c.C2033A:p.P678Q,ATP7B:NM_000053:exon10:c.C2519A:p.P840Q,ATP7B:NM_001243182:exon11:c.C2186A:p.P729Q | 13q14.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.01 | H | -3.92 | D | -6.58 | D | 0.97 | 6.665 | 32 | 0.995 | 0.992 | D | 1.090 | D | 0.958 | D | 0.615 | 0 | 5.73 | 0.917 | 1.048 | 0.999 | 1.000 | 19.893 | Deleterious |
| 1286 | 13 | 51958552 | T | G | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51958552 | 51958552 | T | G | intronic | ATP7B | . | . | . | 13q14.3 | . | rs193922102 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1287 | 13 | 51961849 | T | G | Pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51961849 | 51961849 | T | G | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_000053:exon6:c.T1934C:p.M645T,ATP7B:NM_001243182:exon7:c.T1601C:p.M534T | 13q14.3 | . | . | 0.45 | T | 0.104 | B | 0.018 | B | 0.072 | N | 1 | D | 0.205 | N | -2.57 | D | -0.5 | N | 0.068 | 1.529 | 13.47 | 0.851 | 0.835 | D | -0.775 | T | 0.357 | T | 0.638 | 0 | 1.66 | 0.090 | 0.237 | 0.998 | 0.999 | 4.059 | Tolerated |
| 1288 | 13 | 51961906 | G | C | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51961906 | 51961906 | G | C | exonic | ATP7B | . | synonymous SNV | ATP7B:NM_000053:exon6:c.G1877G:p.G626G,ATP7B:NM_001243182:exon7:c.G1544G:p.G515G | 13q14.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1289 | 13 | 51974906 | C | A | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51974906 | 51974906 | C | A | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_000053:exon2:c.C314T:p.S105L,ATP7B:NM_001005918:exon2:c.C314T:p.S105L,ATP7B:NM_001243182:exon2:c.C314T:p.S105L | 13q14.3 | . | rs753236073 | 0.657 | T | 0.851 | P | 0.329 | B | 0.014 | N | 1 | N | 2.37 | M | -2.12 | D | -2.15 | N | 0.176 | 1.337 | 12.46 | 0.986 | 0.458 | N | -0.053 | T | 0.592 | D | 0.638 | 0 | 4.37 | 0.069 | 1.048 | 0.007 | 0.055 | 12.356 | Deleterious |
| 1290 | 13 | 51975098 | A | G | Pathogenic/Likely pathogenic | ATP7B | . | . | . | . | . | . | . | . | . | . | 13 | 51975098 | 51975098 | A | G | exonic | ATP7B | . | nonsynonymous SNV | ATP7B:NM_000053:exon2:c.A122C:p.N41T,ATP7B:NM_001005918:exon2:c.A122C:p.N41T,ATP7B:NM_001243182:exon2:c.A122C:p.N41T | 13q14.3 | . | . | 0.373 | T | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | N | 0.975 | L | -4.01 | D | -2.24 | N | 0.437 | 5.325 | 25.8 | 0.992 | 0.958 | D | 1.070 | D | 0.910 | D | 0.638 | 0 | 5.75 | 0.987 | 1.059 | 0.891 | 0.993 | 16.054 | Deleterious |
| 1291 | 13 | 76996086 | G | A | Pathogenic/Likely pathogenic | CLN5|FBXL3 | . | . | . | . | . | . | . | . | . | . | 13 | 76996086 | 76996086 | G | A | exonic | CLN5 | . | stopgain | CLN5:NM_006493:exon3:c.G671A:p.W224X | 13q22.3 | 7.7e-05 | rs386833980 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 12.454 | 39 | 0.997 | 0.993 | D | . | . | . | . | 0.732 | 0 | 5.47 | 0.917 | 1.048 | 0.999 | 0.998 | 19.332 | Deleterious (FATHMM) |
| 1292 | 13 | 100273218 | C | T | Pathogenic | PCCA | . | . | . | . | . | . | . | . | . | . | 13 | 100273218 | 100273218 | C | T | exonic | PCCA | . | stopgain | PCCA:NM_001127692:exon11:c.C859T:p.R287X,PCCA:NM_000282:exon12:c.C937T:p.R313X,PCCA:NM_001178004:exon12:c.C937T:p.R313X | 13q32.3 | . | rs138149179 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.805 | 43 | 0.998 | 0.935 | D | . | . | . | . | 0.732 | 0 | 4.67 | -0.058 | 0.935 | 0.725 | 0.840 | 14.180 | Deleterious (FATHMM) |
| 1293 | 14 | 23415153 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23415153 | 23415153 | G | A | exonic | MYH7 | . | stopgain | MYH7:NM_000257:exon37:c.G5401T:p.E1801X | 14q11.2 | . | . | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 14.971 | 48 | 0.997 | 0.984 | D | . | . | . | . | 0.516 | 0 | 5.12 | -0.006 | 0.066 | 0.941 | 0.680 | 18.752 | Deleterious (FATHMM) |
| 1294 | 14 | 23417174 | C | T | Pathogenic/Likely pathogenic | MYH7|MHRT | . | . | . | . | . | . | . | . | . | . | 14 | 23417174 | 23417174 | C | T | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon32:c.C4498A:p.R1500R | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1295 | 14 | 23418244 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23418244 | 23418244 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon30:c.G4135T:p.A1379S | 14q11.2 | . | . | 0.002 | D | 0.98 | D | 0.892 | P | . | . | 1 | D | 3.685 | H | -1.2 | T | -2.07 | N | 0.728 | 7.045 | 33 | 0.998 | 0.990 | D | 0.701 | D | 0.714 | D | 0.497 | 0 | 4.83 | 0.871 | 0.848 | 0.987 | 0.918 | 18.107 | Deleterious |
| 1296 | 14 | 23419993 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23419993 | 23419993 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon27:c.G3578T:p.R1193L | 14q11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1 | D | 4.075 | H | -1.83 | D | -5.01 | D | 0.891 | 7.445 | 34 | 0.999 | 0.958 | D | 0.989 | D | 0.859 | D | 0.516 | 0 | 5.1 | 0.871 | 0.848 | 1.000 | 0.997 | 18.716 | Deleterious |
| 1297 | 14 | 23420225 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23420225 | 23420225 | G | A | exonic | MYH7 | . | stopgain | MYH7:NM_000257:exon27:c.G3346T:p.E1116X | 14q11.2 | . | . | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 14.434 | 46 | 0.998 | 0.993 | D | . | . | . | . | 0.497 | 0 | 5.13 | 0.871 | 0.844 | 0.998 | 0.841 | 18.771 | Deleterious (FATHMM) |
| 1298 | 14 | 23422267 | G | A | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23422267 | 23422267 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon25:c.G3158T:p.R1053L | 14q11.2 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | . | . | 1 | D | 3.675 | H | -3.66 | D | -5.4 | D | 0.935 | 7.900 | 35 | 0.999 | 0.980 | D | 1.087 | D | 0.939 | D | 0.497 | 0 | 4.64 | 0.871 | 0.917 | 1.000 | 0.994 | 18.045 | Deleterious |
| 1299 | 14 | 23424041 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424041 | 23424041 | G | A | exonic | MYH7 | . | stopgain | MYH7:NM_000257:exon23:c.G2788T:p.E930X | 14q11.2 | . | . | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 13.889 | 43 | 0.998 | 0.984 | D | . | . | . | . | 0.554 | 0 | 5.55 | 0.871 | 0.917 | 1.000 | 0.999 | 19.698 | Deleterious (FATHMM) |
| 1300 | 14 | 23424059 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424059 | 23424059 | G | A | exonic | MYH7 | . | stopgain | MYH7:NM_000257:exon23:c.G2770T:p.E924X | 14q11.2 | . | . | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 14.444 | 46 | 0.998 | 0.990 | D | . | . | . | . | 0.487 | 0 | 5.55 | 0.871 | 0.917 | 0.918 | 0.988 | 19.698 | Deleterious (FATHMM) |
| 1301 | 14 | 23424107 | C | G | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424107 | 23424107 | C | G | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon23:c.C2722C:p.L908L | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1302 | 14 | 23424112 | A | G | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424112 | 23424112 | A | G | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon23:c.A2717C:p.D906A | 14q11.2 | . | . | 0.003 | D | 0.265 | B | 0.297 | B | . | . | 1.000 | D | 0.98 | L | -2.38 | D | -4.21 | D | 0.551 | 4.493 | 24.3 | 0.993 | 0.988 | D | 0.074 | D | 0.600 | D | 0.554 | 0 | 5.55 | 0.991 | 1.040 | 1.000 | 0.997 | 15.861 | Deleterious |
| 1303 | 14 | 23424119 | C | T | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424119 | 23424119 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon23:c.C2710A:p.R904S | 14q11.2 | . | . | 0.0 | D | 0.939 | P | 0.791 | P | . | . | 1.000 | D | 2.975 | M | -3.22 | D | -4.61 | D | 0.936 | 6.523 | 31 | 0.998 | 0.438 | N | 0.927 | D | 0.877 | D | 0.554 | 0 | 5.55 | 0.917 | 1.027 | 1.000 | 1.000 | 13.880 | Deleterious |
| 1304 | 14 | 23424839 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424839 | 23424839 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon22:c.G2609T:p.R870L | 14q11.2 | . | . | 0.0 | D | 0.723 | P | 0.631 | P | . | . | 1.000 | D | 2.31 | M | -1.48 | T | -5.03 | D | 0.669 | 7.331 | 34 | 0.999 | 0.930 | D | 0.299 | D | 0.597 | D | 0.516 | 0 | 4.73 | 0.871 | 0.932 | 1.000 | 1.000 | 18.243 | Deleterious |
| 1305 | 14 | 23424935 | C | T | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23424935 | 23424935 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon22:c.C2513A:p.P838Q | 14q11.2 | . | rs397516153 | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1 | D | 4.365 | H | -3.17 | D | -6.75 | D | 0.866 | 6.652 | 32 | 0.994 | 0.987 | D | 1.101 | D | 0.942 | D | 0.516 | 0 | 4.6 | 0.917 | 1.045 | 0.997 | 0.956 | 17.959 | Deleterious |
| 1306 | 14 | 23425316 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425316 | 23425316 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon21:c.G2389T:p.A797S | 14q11.2 | . | . | 0.109 | T | 0.0 | B | 0.003 | B | . | . | 1 | N | 0.08 | N | -2.99 | D | -0.08 | N | 0.228 | 1.951 | 15.91 | 0.961 | 0.012 | N | -0.597 | T | 0.489 | T | 0.554 | 0 | 0.747 | 0.109 | 0.224 | 0.948 | 0.979 | 9.84 | Tolerated |
| 1307 | 14 | 23425403 | G | A | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425403 | 23425403 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon21:c.G2302T:p.G768W | 14q11.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | . | . | 1 | D | 3.95 | H | -3.87 | D | -6.76 | D | 0.924 | 8.219 | 35 | 0.995 | 0.994 | D | 1.099 | D | 0.953 | D | 0.487 | 0 | 4.6 | 0.871 | 0.932 | 0.996 | 0.873 | 17.959 | Deleterious |
| 1308 | 14 | 23425760 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425760 | 23425760 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon20:c.G2221T:p.G741W | 14q11.2 | . | rs121913632 | 0.0 | D | 0.999 | D | 0.992 | D | . | . | 1 | D | 3.18 | M | -3.67 | D | -3.85 | D | 0.836 | 7.553 | 34 | 0.997 | 0.967 | D | 1.075 | D | 0.928 | D | 0.554 | 0 | 4.79 | 0.871 | 0.888 | 0.994 | 0.997 | 18.013 | Deleterious |
| 1309 | 14 | 23425760 | G | C | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425760 | 23425760 | G | C | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon20:c.G2221G:p.G741G | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1310 | 14 | 23425774 | T | C | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425774 | 23425774 | T | C | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon20:c.T2207G:p.I736S | 14q11.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | . | . | 1 | D | 1.385 | L | -2.16 | D | -4.51 | D | 0.879 | 5.337 | 25.8 | 0.996 | 0.988 | D | 0.495 | D | 0.703 | D | 0.487 | 0 | 4.88 | 1.062 | 1.194 | 1.000 | 1.000 | 14.652 | Deleterious |
| 1311 | 14 | 23425790 | C | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425790 | 23425790 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon20:c.C2191A:p.P731T | 14q11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1 | D | 3.755 | H | -2.22 | D | -6.86 | D | 0.62 | 5.677 | 26.7 | 0.998 | 0.997 | D | 0.986 | D | 0.864 | D | 0.487 | 0 | 4.88 | 0.917 | 1.045 | 1.000 | 0.999 | 18.221 | Deleterious |
| 1312 | 14 | 23425814 | C | G | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425814 | 23425814 | C | G | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon20:c.C2167C:p.R723R | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1313 | 14 | 23425814 | C | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425814 | 23425814 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon20:c.C2167A:p.R723S | 14q11.2 | . | . | 0.003 | D | 0.48 | P | 0.627 | P | . | . | 1.000 | D | 1.87 | L | -2.21 | D | -3.71 | D | 0.889 | 5.018 | 25.2 | 0.998 | 0.806 | D | 0.188 | D | 0.670 | D | 0.490 | 1 | 3.94 | 0.917 | 1.045 | 0.953 | 0.993 | 13.979 | Deleterious |
| 1314 | 14 | 23425970 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425970 | 23425970 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon19:c.G2156T:p.R719L | 14q11.2 | . | . | 0.0 | D | 0.002 | B | 0.015 | B | . | . | 0.991 | D | -0.4 | N | -3.45 | D | -4.46 | D | 0.581 | 6.289 | 29.1 | 0.996 | 0.707 | D | -0.003 | T | 0.599 | D | 0.487 | 0 | 5.03 | 0.871 | 0.932 | 0.997 | 0.999 | 13.903 | Deleterious |
| 1315 | 14 | 23425971 | C | T | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23425971 | 23425971 | C | T | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon19:c.C2155A:p.R719R | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1316 | 14 | 23426833 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23426833 | 23426833 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon18:c.G1988T:p.R663L | 14q11.2 | . | . | 0.0 | D | 0.255 | B | 0.476 | P | . | . | 1.000 | D | 2.64 | M | -2.33 | D | -5.35 | D | 0.802 | 7.499 | 34 | 0.998 | 0.983 | D | 0.570 | D | 0.737 | D | 0.487 | 0 | 3.98 | 0.871 | 0.848 | 0.997 | 1.000 | 15.196 | Deleterious |
| 1317 | 14 | 23426834 | C | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23426834 | 23426834 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon18:c.C1987A:p.R663S | 14q11.2 | . | . | 0.0 | D | 0.292 | B | 0.67 | P | . | . | 1.000 | D | 1.82 | L | -2.22 | D | -4.31 | D | 0.858 | 6.848 | 33 | 0.998 | 0.876 | D | 0.543 | D | 0.742 | D | 0.487 | 0 | 4.89 | 0.917 | 0.949 | 0.996 | 1.000 | 18.236 | Deleterious |
| 1318 | 14 | 23427242 | A | G | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23427242 | 23427242 | A | G | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon17:c.A1954C:p.R652R | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1319 | 14 | 23427657 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23427657 | 23427657 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon16:c.G1816T:p.V606L | 14q11.2 | . | . | 0.02 | D | 0.007 | B | 0.058 | B | . | . | 1.000 | D | 2.05 | M | -2.21 | D | -2.64 | D | 0.73 | 5.266 | 25.7 | 0.988 | 0.971 | D | 0.056 | D | 0.599 | D | 0.487 | 0 | 5.13 | 0.868 | 0.931 | 0.771 | 0.957 | 14.149 | Deleterious |
| 1320 | 14 | 23427723 | G | C | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23427723 | 23427723 | G | C | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon16:c.G1750G:p.G584G | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1321 | 14 | 23429004 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23429004 | 23429004 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon14:c.G1358T:p.R453L | 14q11.2 | . | . | 0.0 | D | 0.999 | D | 0.999 | D | . | . | 1 | D | 3.455 | M | -2.26 | D | -6.27 | D | 0.943 | 7.731 | 35 | 0.999 | 0.975 | D | 0.942 | D | 0.841 | D | 0.516 | 0 | 4.18 | 0.871 | 0.847 | 1.000 | 1.000 | 16.686 | Deleterious |
| 1322 | 14 | 23429005 | C | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23429005 | 23429005 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon14:c.C1357A:p.R453S | 14q11.2 | . | rs121913625 | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1.000 | D | 1.705 | L | -2.2 | D | -5.37 | D | 0.943 | 6.545 | 31 | 0.998 | 0.612 | D | 0.484 | D | 0.710 | D | 0.516 | 0 | 4.18 | 0.917 | 0.948 | 1.000 | 1.000 | 11.531 | Deleterious |
| 1323 | 14 | 23429278 | G | A | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23429278 | 23429278 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon13:c.G1208T:p.R403L | 14q11.2 | . | rs121913624 | 0.0 | D | 0.999 | D | 0.999 | D | . | . | 1.000 | D | 3.565 | H | -2.33 | D | -6.13 | D | 0.996 | 6.981 | 33 | 0.999 | 0.992 | D | 0.959 | D | 0.845 | D | 0.487 | 0 | 4.04 | 0.871 | 0.847 | 0.940 | 0.983 | 16.373 | Deleterious |
| 1324 | 14 | 23429279 | C | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23429279 | 23429279 | C | T | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon13:c.C1207A:p.R403R | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1325 | 14 | 23429807 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23429807 | 23429807 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon12:c.G1106T:p.R369L | 14q11.2 | . | . | 0.0 | D | 0.028 | B | 0.196 | B | . | . | 1.000 | D | 3.73 | H | -2.28 | D | -6.08 | D | 0.833 | 7.533 | 34 | 0.998 | 0.975 | D | 0.686 | D | 0.773 | D | 0.487 | 0 | 3.94 | 0.787 | 0.766 | 0.980 | 0.998 | 16.150 | Deleterious |
| 1326 | 14 | 23429901 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23429901 | 23429901 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon12:c.G1012T:p.V338L | 14q11.2 | . | . | 0.007 | D | 0.001 | B | 0.019 | B | . | . | 1.000 | D | 2.18 | M | -3.69 | D | -1.43 | N | 0.566 | 3.315 | 22.9 | 0.989 | 0.632 | D | 0.596 | D | 0.802 | D | 0.487 | 0 | 4.04 | 0.868 | 0.850 | 0.997 | 0.833 | 9.959 | Deleterious |
| 1327 | 14 | 23430954 | G | C | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23430954 | 23430954 | G | C | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon10:c.G842G:p.R281R | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1328 | 14 | 23431426 | T | C | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23431426 | 23431426 | T | C | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon9:c.T788G:p.I263R | 14q11.2 | . | . | 0.0 | D | 0.516 | P | 0.793 | P | . | . | 1 | D | 4.725 | H | -2.88 | D | -5.71 | D | 0.958 | 4.985 | 25.1 | 0.983 | 0.996 | D | 1.048 | D | 0.926 | D | 0.497 | 0 | 3.47 | 0.960 | 1.032 | 0.998 | 1.000 | 12.414 | Deleterious |
| 1329 | 14 | 23431447 | G | A | Pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23431447 | 23431447 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon9:c.G767T:p.G256V | 14q11.2 | . | . | 0.0 | D | 0.996 | D | 0.995 | D | . | . | 1 | D | 4.355 | H | -4.04 | D | -7.1 | D | 0.946 | 5.282 | 25.7 | 0.997 | 0.989 | D | 1.083 | D | 0.963 | D | 0.497 | 0 | 3.47 | 0.791 | 0.810 | 0.998 | 0.996 | 15.488 | Deleterious |
| 1330 | 14 | 23431468 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23431468 | 23431468 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon9:c.G746T:p.R249L | 14q11.2 | . | . | 0.0 | D | 0.896 | P | 0.877 | P | . | . | 1 | D | 3.95 | H | -3.71 | D | -5.7 | D | 0.892 | 6.124 | 28.3 | 0.998 | 0.989 | D | 1.105 | D | 0.943 | D | 0.497 | 0 | 3.47 | 0.791 | 0.810 | 0.996 | 0.991 | 15.488 | Deleterious |
| 1331 | 14 | 23431584 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23431584 | 23431584 | G | A | splicing | MYH7 | NM_000257:exon8:c.732+1C>T | . | . | 14q11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.200 | 25.5 | 0.994 | 0.964 | D | . | . | . | . | 0.054 | 0 | 3.47 | 0.791 | 0.810 | 0.980 | 0.884 | 15.488 | Deleterious (FATHMM) |
| 1332 | 14 | 23431804 | C | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23431804 | 23431804 | C | T | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon7:c.C596A:p.A199E | 14q11.2 | . | . | 0.0 | D | 0.998 | D | 0.993 | D | . | . | 1 | D | 2.79 | M | -2.25 | D | -3.49 | D | 0.893 | 5.932 | 27.6 | 0.994 | 0.967 | D | 0.782 | D | 0.790 | D | 0.549 | 0 | 3.12 | 0.830 | 0.804 | 0.995 | 0.987 | 14.718 | Deleterious |
| 1333 | 14 | 23432703 | G | T | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23432703 | 23432703 | G | T | exonic | MYH7 | . | synonymous SNV | MYH7:NM_000257:exon5:c.G438A:p.K146K | 14q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1334 | 14 | 23432713 | G | A | Pathogenic/Likely pathogenic | MYH7 | . | . | . | . | . | . | . | . | . | . | 14 | 23432713 | 23432713 | G | A | exonic | MYH7 | . | nonsynonymous SNV | MYH7:NM_000257:exon5:c.G428T:p.R143L | 14q11.2 | . | . | 0.001 | D | 0.717 | P | 0.589 | P | . | . | 1.000 | D | 2.625 | M | -2.32 | D | -4.65 | D | 0.927 | 6.145 | 28.4 | 0.998 | 0.983 | D | 0.656 | D | 0.721 | D | 0.497 | 0 | 3.61 | 0.791 | 0.763 | 0.997 | 0.862 | 15.807 | Deleterious |
| 1335 | 14 | 28767840 | C | A | Pathogenic | FOXG1 | . | . | . | . | . | . | . | . | . | . | 14 | 28767840 | 28767840 | C | A | exonic | FOXG1 | . | nonsynonymous SNV | FOXG1:NM_005249:exon1:c.C561A:p.N187K | 14q12 | . | rs796052462 | 0.007 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1.000 | D | 1.24 | L | -3.68 | D | -5.17 | D | 0.435 | 5.397 | 26.0 | 0.997 | 0.942 | D | 0.585 | D | 0.816 | D | 0.598 | 0 | 1.81 | -0.024 | 0.721 | 0.994 | 0.997 | 8.157 | Deleterious |
| 1336 | 14 | 31599308 | T | C | Pathogenic/Likely pathogenic | NUBPL | . | . | . | . | . | . | . | . | . | . | 14 | 31599308 | 31599308 | T | C | exonic | NUBPL | . | nonsynonymous SNV | NUBPL:NM_001201573:exon2:c.T23C:p.L8P,NUBPL:NM_025152:exon4:c.T311C:p.L104P | 14q12 | 8.5e-05 | rs201430951 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.505 | H | 0.72 | T | -6.52 | D | 0.986 | 6.240 | 28.9 | 0.999 | 0.925 | D | 0.008 | D | 0.401 | T | 0.706 | 0 | 5.4 | 0.991 | 1.011 | 0.995 | 0.982 | 13.655 | Tolerated |
| 1337 | 14 | 31850092 | T | C | Pathogenic | NUBPL | . | . | . | . | . | . | . | . | . | . | 14 | 31850092 | 31850092 | T | C | intronic | NUBPL | . | . | . | 14q12 | 0.0035 | rs118161496 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1338 | 14 | 50613343 | C | T | Pathogenic | ATL1 | . | . | . | . | . | . | . | . | . | . | 14 | 50613343 | 50613343 | C | T | exonic | ATL1 | . | nonsynonymous SNV | ATL1:NM_015915:exon7:c.C715T:p.R239C,ATL1:NM_181598:exon7:c.C715T:p.R239C,ATL1:NM_001127713:exon8:c.C715T:p.R239C | 14q22.1 | . | rs119476046 | 0.037 | D | 0.764 | P | 0.342 | B | 0.000 | N | 1 | A | 2.405 | M | 0.08 | T | -7.39 | D | 0.973 | 5.892 | 27.4 | 0.998 | 0.916 | D | -0.474 | T | 0.203 | T | 0.615 | 0 | 4.38 | -0.058 | 0.935 | 0.975 | 1.000 | 7.821 | Tolerated |
| 1339 | 14 | 50614406 | G | A | Pathogenic/Likely pathogenic | ATL1 | . | . | . | . | . | . | . | . | . | . | 14 | 50614406 | 50614406 | G | A | exonic | ATL1 | . | nonsynonymous SNV | ATL1:NM_015915:exon8:c.G757A:p.V253I,ATL1:NM_181598:exon8:c.G757A:p.V253I,ATL1:NM_001127713:exon9:c.G757A:p.V253I | 14q22.1 | . | rs864622520 | 0.007 | D | 0.646 | P | 0.569 | P | 0.000 | D | 1 | D | 2.01 | M | 0.16 | T | -0.21 | N | 0.797 | 3.058 | 22.4 | 0.998 | 0.996 | D | -0.519 | T | 0.304 | T | 0.615 | 0 | 5.63 | 0.917 | 1.048 | 0.978 | 0.982 | 19.027 | Tolerated |
| 1340 | 14 | 50628394 | C | T | Pathogenic | ATL1 | . | . | . | . | . | . | . | . | . | . | 14 | 50628394 | 50628394 | C | T | exonic | ATL1 | . | nonsynonymous SNV | ATL1:NM_015915:exon12:c.C1483T:p.R495W,ATL1:NM_181598:exon12:c.C1483T:p.R495W,ATL1:NM_001127713:exon13:c.C1483T:p.R495W | 14q22.1 | . | rs864622269 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.435 | M | -3.01 | D | -7.27 | D | 0.988 | 7.430 | 34 | 0.999 | 0.914 | D | 0.827 | D | 0.849 | D | 0.651 | 0 | 4.73 | 0.871 | 0.935 | 0.999 | 0.997 | 11.635 | Deleterious |
| 1341 | 14 | 74494329 | G | A | Pathogenic/Likely pathogenic | ISCA2 | . | . | . | . | . | . | . | . | . | . | 14 | 74494329 | 74494329 | G | A | exonic | ISCA2 | . | nonsynonymous SNV | ISCA2:NM_194279:exon3:c.G229A:p.G77S | 14q24.3 | . | rs730882246 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.09 | M | . | . | -5.98 | D | 0.762 | 7.185 | 34 | 0.999 | 0.961 | D | -0.143 | T | 0.436 | T | 0.628 | 0 | 5.28 | 0.917 | 1.048 | 1.000 | 1.000 | 19.093 | Tolerated |
| 1342 | 14 | 75005867 | G | T | Pathogenic/Likely pathogenic | EIF2B2 | . | . | . | . | . | . | . | . | . | . | 14 | 75005867 | 75005867 | G | T | exonic | EIF2B2 | . | nonsynonymous SNV | EIF2B2:NM_014239:exon5:c.G599T:p.G200V | 14q24.3 | 0.0004 | rs113994012 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.385 | M | -4.37 | D | -8.88 | D | 0.993 | 6.924 | 33 | 0.998 | 0.997 | D | 1.091 | D | 0.964 | D | 0.722 | 0 | 5.53 | 0.917 | 1.048 | 0.990 | 0.989 | 19.656 | Deleterious |
| 1343 | 14 | 77278764 | A | G | Pathogenic/Likely pathogenic | POMT2 | . | . | . | . | . | . | . | . | . | . | 14 | 77278764 | 77278764 | A | G | exonic | POMT2 | . | nonsynonymous SNV | POMT2:NM_013382:exon19:c.A1997C:p.Y666S | 14q24.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.435 | M | -4.33 | D | -7.69 | D | 0.932 | 6.629 | 32 | 0.994 | 0.958 | D | 1.101 | D | 0.961 | D | 0.732 | 0 | 5.68 | 0.899 | 1.011 | 1.000 | 1.000 | 15.915 | Deleterious |
| 1344 | 14 | 77285548 | C | T | Pathogenic | POMT2 | . | . | . | . | . | . | . | . | . | . | 14 | 77285548 | 77285548 | C | T | exonic | POMT2 | . | synonymous SNV | POMT2:NM_013382:exon13:c.C1417A:p.R473R | 14q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1345 | 14 | 87941529 | A | C | Pathogenic/Likely pathogenic | GALC | . | . | . | . | . | . | . | . | . | . | 14 | 87941529 | 87941529 | A | C | exonic | GALC | . | nonsynonymous SNV | GALC:NM_001201401:exon14:c.A1631G:p.Y544C,GALC:NM_000153:exon15:c.A1700G:p.Y567C,GALC:NM_001201402:exon15:c.A1622G:p.Y541C | 14q31.3 | . | . | 0.042 | D | 0.999 | D | 0.985 | D | 0.000 | D | 1.000 | D | 2.36 | M | -3.61 | D | -4.06 | D | 0.686 | 3.152 | 22.6 | 0.998 | 0.927 | D | 0.908 | D | 0.891 | D | 0.706 | 0 | 4.57 | 0.991 | 1.011 | 0.993 | 0.998 | 12.180 | Deleterious |
| 1346 | 14 | 87968386 | G | A | Pathogenic/Likely pathogenic | GALC | . | . | . | . | . | . | . | . | . | . | 14 | 87968386 | 87968386 | G | A | exonic | GALC | . | nonsynonymous SNV | GALC:NM_001201401:exon7:c.G788T:p.G263V,GALC:NM_000153:exon8:c.G857T:p.G286V,GALC:NM_001201402:exon8:c.G779T:p.G260V | 14q31.3 | . | . | 0.107 | T | 1.0 | D | 0.992 | D | 0.000 | D | 1 | D | 2.635 | M | -3.79 | D | -5.68 | D | 0.968 | 6.758 | 32 | 0.997 | 0.975 | D | 1.036 | D | 0.923 | D | 0.693 | 0 | 4.68 | 0.871 | 0.892 | 0.962 | 0.970 | 16.727 | Deleterious |
| 1347 | 14 | 94378610 | G | A | Pathogenic, other | SERPINA1 | . | . | . | . | . | . | . | . | . | . | 14 | 94378610 | 94378610 | G | A | exonic | SERPINA1 | . | stopgain | SERPINA1:NM_000295:exon5:c.G1096T:p.E366X,SERPINA1:NM_001002235:exon5:c.G1096T:p.E366X,SERPINA1:NM_001127700:exon5:c.G1096T:p.E366X,SERPINA1:NM_001127702:exon6:c.G1096T:p.E366X,SERPINA1:NM_001127706:exon6:c.G1096T:p.E366X,SERPINA1:NM_001127707:exon6:c.G1096T:p.E366X,SERPINA1:NM_001002236:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127701:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127703:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127704:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127705:exon7:c.G1096T:p.E366X | 14q32.13 | . | . | . | . | . | . | . | . | 0.008 | N | 1 | D | . | . | . | . | . | . | . | 9.983 | 36 | 0.991 | 0.931 | D | . | . | . | . | 0.516 | 0 | 2.95 | 0.871 | 0.935 | 0.913 | 0.694 | 8.489 | Deleterious (FATHMM) |
| 1348 | 14 | 94380925 | A | T | Pathogenic, not provided, other | SERPINA1 | . | . | . | . | . | . | . | . | . | . | 14 | 94380925 | 94380925 | A | T | exonic | SERPINA1 | . | synonymous SNV | SERPINA1:NM_000295:exon3:c.A863A:p.E288E,SERPINA1:NM_001002235:exon3:c.A863A:p.E288E,SERPINA1:NM_001127700:exon3:c.A863A:p.E288E,SERPINA1:NM_001127702:exon4:c.A863A:p.E288E,SERPINA1:NM_001127706:exon4:c.A863A:p.E288E,SERPINA1:NM_001127707:exon4:c.A863A:p.E288E,SERPINA1:NM_001002236:exon5:c.A863A:p.E288E,SERPINA1:NM_001127701:exon5:c.A863A:p.E288E,SERPINA1:NM_001127703:exon5:c.A863A:p.E288E,SERPINA1:NM_001127704:exon5:c.A863A:p.E288E,SERPINA1:NM_001127705:exon5:c.A863A:p.E288E | 14q32.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1349 | 14 | 95096166 | C | G | Pathogenic | DICER1 | . | . | . | . | . | . | . | . | . | . | 14 | 95096166 | 95096166 | C | G | exonic | DICER1 | . | synonymous SNV | DICER1:NM_001195573:exon22:c.C4754C:p.S1585S,DICER1:NM_001271282:exon23:c.C4754C:p.S1585S,DICER1:NM_001291628:exon23:c.C4754C:p.S1585S,DICER1:NM_177438:exon23:c.C4754C:p.S1585S,DICER1:NM_030621:exon25:c.C4754C:p.S1585S | 14q32.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1350 | 14 | 95112226 | C | T | Pathogenic | DICER1 | . | . | . | . | . | . | . | . | . | . | 14 | 95112226 | 95112226 | C | T | exonic | DICER1 | . | synonymous SNV | DICER1:NM_001195573:exon12:c.C2062A:p.R688R,DICER1:NM_001271282:exon13:c.C2062A:p.R688R,DICER1:NM_001291628:exon13:c.C2062A:p.R688R,DICER1:NM_177438:exon13:c.C2062A:p.R688R,DICER1:NM_030621:exon15:c.C2062A:p.R688R | 14q32.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1351 | 14 | 95113106 | C | T | Pathogenic | DICER1 | . | . | . | . | . | . | . | . | . | . | 14 | 95113106 | 95113106 | C | T | exonic | DICER1 | . | synonymous SNV | DICER1:NM_001195573:exon11:c.C2026A:p.R676R,DICER1:NM_001271282:exon12:c.C2026A:p.R676R,DICER1:NM_001291628:exon12:c.C2026A:p.R676R,DICER1:NM_177438:exon12:c.C2026A:p.R676R,DICER1:NM_030621:exon14:c.C2026A:p.R676R | 14q32.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1352 | 14 | 95130072 | C | T | Pathogenic | DICER1 | . | . | . | . | . | . | . | . | . | . | 14 | 95130072 | 95130072 | C | T | exonic | DICER1 | . | synonymous SNV | DICER1:NM_001195573:exon4:c.C559A:p.R187R,DICER1:NM_001271282:exon5:c.C559A:p.R187R,DICER1:NM_001291628:exon5:c.C559A:p.R187R,DICER1:NM_177438:exon5:c.C559A:p.R187R,DICER1:NM_030621:exon7:c.C559A:p.R187R | 14q32.13 | . | rs763801533 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1353 | 14 | 96876033 | C | T | Pathogenic | VRK1 | . | . | . | . | . | . | . | . | . | . | 14 | 96876033 | 96876033 | C | T | exonic | VRK1 | . | stopgain | VRK1:NM_003384:exon12:c.C1072T:p.R358X | 14q32.2 | 7.7e-05 | rs137853063 | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 12.208 | 38 | 0.996 | 0.642 | D | . | . | . | . | 0.732 | 0 | -1.18 | 0.871 | 0.038 | 0.995 | 0.979 | 15.587 | Deleterious (FATHMM) |
| 1354 | 14 | 101986017 | C | T | Pathogenic/Likely pathogenic | DYNC1H1 | . | . | . | . | . | . | . | . | . | . | 14 | 101986017 | 101986017 | C | T | exonic | DYNC1H1 | . | nonsynonymous SNV | DYNC1H1:NM_001376:exon8:c.C1792T:p.R598C | 14q32.31 | . | rs587780564 | 0.0 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.425 | M | 0.18 | T | -7.03 | D | 0.914 | 7.198 | 34 | 0.999 | 0.960 | D | 0.145 | D | 0.494 | T | 0.707 | 0 | 5.85 | 0.871 | 0.932 | 0.999 | 0.997 | 15.729 | Tolerated |
| 1355 | 14 | 102002694 | G | A | Pathogenic | DYNC1H1 | . | . | . | . | . | . | . | . | . | . | 14 | 102002694 | 102002694 | G | A | exonic | DYNC1H1 | . | nonsynonymous SNV | DYNC1H1:NM_001376:exon22:c.G4700A:p.R1567Q | 14q32.31 | . | rs797044901 | 0.001 | D | 1.0 | D | 0.991 | D | 0.000 | D | 1 | D | 2.995 | M | 0.02 | T | -3.77 | D | 0.726 | 7.576 | 34 | 1.000 | 0.999 | D | 0.108 | D | 0.487 | T | 0.707 | 0 | 4.88 | 0.917 | 1.048 | 0.939 | 0.998 | 14.546 | Tolerated |
| 1356 | 15 | 23644619 | C | T | Pathogenic | MAGEL2 | . | . | . | . | . | . | . | . | . | . | 15 | 23644619 | 23644619 | C | T | exonic | MAGEL2 | . | nonsynonymous SNV | MAGEL2:NM_019066:exon1:c.C3124A:p.Q1042K | 15q11.2 | . | . | . | . | 0.0 | B | 0.004 | B | . | . | 0.999 | N | -1.21 | N | . | . | . | . | 0.056 | 0.873 | 9.904 | 0.768 | 0.178 | N | . | . | . | . | 0.646 | 0 | 3.45 | -0.033 | -0.004 | 0.507 | 0.521 | 7.738 | |
| 1357 | 15 | 23645831 | C | T | Pathogenic/Likely pathogenic | MAGEL2 | . | . | . | . | . | . | . | . | . | . | 15 | 23645831 | 23645831 | C | T | exonic | MAGEL2 | . | nonsynonymous SNV | MAGEL2:NM_019066:exon1:c.C1912A:p.Q638K | 15q11.2 | . | . | . | . | 0.608 | P | 0.143 | B | . | . | 1.000 | N | 1.5 | L | . | . | . | . | 0.139 | 1.909 | 15.64 | 0.981 | 0.818 | D | . | . | . | . | 0.487 | 0 | 3.43 | 0.893 | 0.874 | 0.129 | 0.818 | 6.801 | Deleterious (FATHMM) |
| 1358 | 15 | 27983340 | G | A | Pathogenic | OCA2 | . | . | . | . | . | . | . | . | . | . | 15 | 27983340 | 27983340 | G | A | intronic | OCA2 | . | . | . | 15q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1359 | 15 | 27985101 | G | A | Pathogenic | OCA2 | . | . | . | . | . | . | . | . | . | . | 15 | 27985101 | 27985101 | G | A | exonic | OCA2 | . | nonsynonymous SNV | OCA2:NM_001300984:exon12:c.G1255T:p.V419F,OCA2:NM_000275:exon13:c.G1327T:p.V443F | 15q13.1 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.465 | M | -1.34 | T | -4.94 | D | 0.975 | 7.700 | 35 | 0.996 | 0.978 | D | 0.746 | D | 0.762 | D | 0.500 | 0 | 5.2 | 0.871 | 0.935 | 0.995 | 0.867 | 18.094 | Deleterious |
| 1360 | 15 | 34793398 | G | A | Pathogenic/Likely pathogenic | ACTC1|LOC101928174 | . | . | . | . | . | . | . | . | . | . | 15 | 34793398 | 34793398 | G | A | exonic | ACTC1 | . | stopgain | ACTC1:NM_005159:exon3:c.G301T:p.E101X | 15q14 | . | . | . | . | . | . | . | . | 0.000 | U | 1 | A | . | . | . | . | . | . | . | 13.323 | 41 | 0.998 | 0.962 | D | . | . | . | . | 0.635 | 0 | 5.63 | 0.871 | 0.935 | 0.997 | 0.982 | 20.044 | Deleterious (FATHMM) |
| 1361 | 15 | 40410699 | G | A | Pathogenic/Likely pathogenic | IVD | . | . | . | . | . | . | . | . | . | . | 15 | 40410699 | 40410699 | G | A | exonic | IVD | . | nonsynonymous SNV | IVD:NM_001159508:exon3:c.G277A:p.G93R,IVD:NM_002225:exon4:c.G367A:p.G123R | 15q15.1 | 7.7e-05 | rs142761835 | 0.001 | D | 1.0 | D | 0.999 | D | 0.008 | N | 1.000 | D | 2.95 | M | -6.52 | D | -5.04 | D | 0.89 | 6.886 | 33 | 0.999 | 0.994 | D | 1.001 | D | 0.990 | D | 0.707 | 0 | 5.07 | 0.917 | 1.048 | 0.881 | 0.363 | 18.638 | Deleterious |
| 1362 | 15 | 40415454 | C | T | Pathogenic | IVD | . | . | . | . | . | . | . | . | . | . | 15 | 40415454 | 40415454 | C | T | exonic | IVD | . | nonsynonymous SNV | IVD:NM_001159508:exon8:c.C851T:p.A284V,IVD:NM_002225:exon9:c.C941T:p.A314V | 15q15.1 | 0.0007 | rs28940889 | 0.009 | D | 0.973 | D | 0.846 | P | 0.000 | D | 1 | A | 2.16 | M | -3.92 | D | -1.4 | N | 0.924 | 7.050 | 33 | 0.999 | 0.962 | D | -0.341 | T | 0.395 | T | 0.707 | 0 | 5.38 | 0.871 | 0.892 | 1.000 | 1.000 | 19.134 | Tolerated |
| 1363 | 15 | 42359950 | C | T | Pathogenic/Likely pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42359950 | 42359950 | C | T | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_000070:exon1:c.C145T:p.R49C,CAPN3:NM_024344:exon1:c.C145T:p.R49C,CAPN3:NM_173087:exon1:c.C145T:p.R49C | 15q15.1 | . | rs794726871 | 0.001 | D | 1.0 | D | 0.999 | D | 0.002 | U | 1 | D | 0.805 | L | -4.4 | D | -2.0 | N | 0.954 | 7.454 | 34 | 0.999 | 0.928 | D | 0.955 | D | 0.895 | D | 0.554 | 0 | 5.01 | 0.871 | 0.935 | 0.999 | 1.000 | 13.837 | Deleterious |
| 1364 | 15 | 42389944 | G | A | Pathogenic/Likely pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42389944 | 42389944 | G | A | intronic | CAPN3 | . | . | . | 15q15.1 | . | rs761211705 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1365 | 15 | 42399483 | A | G | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42399483 | 42399483 | A | G | intronic | CAPN3 | . | . | . | 15q15.1 | 7.7e-05 | rs374665929 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1366 | 15 | 42399617 | G | A | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42399617 | 42399617 | G | A | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173087:exon9:c.G1175A:p.R392Q,CAPN3:NM_000070:exon10:c.G1319A:p.R440Q,CAPN3:NM_024344:exon10:c.G1319A:p.R440Q | 15q15.1 | 7.7e-05 | rs376107921 | 0.009 | D | 1.0 | D | 0.979 | D | 0.000 | U | 1.000 | D | 2.54 | M | -2.3 | D | -3.32 | D | 0.888 | 7.346 | 34 | 1.000 | 0.985 | D | 0.645 | D | 0.772 | D | 0.638 | 0 | 5.37 | 0.917 | 1.048 | 0.992 | 0.997 | 12.599 | Deleterious |
| 1367 | 15 | 42399640 | C | T | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42399640 | 42399640 | C | T | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173087:exon9:c.C1198T:p.R400C,CAPN3:NM_000070:exon10:c.C1342T:p.R448C,CAPN3:NM_024344:exon10:c.C1342T:p.R448C | 15q15.1 | . | rs776043976 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 3.52 | H | -2.5 | D | -7.46 | D | 0.973 | 8.050 | 35 | 0.999 | 0.962 | D | 0.931 | D | 0.865 | D | 0.638 | 0 | 5.37 | 0.871 | 0.935 | 0.999 | 0.998 | 14.184 | Deleterious |
| 1368 | 15 | 42399641 | G | A | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42399641 | 42399641 | G | A | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173087:exon9:c.G1199A:p.R400H,CAPN3:NM_000070:exon10:c.G1343A:p.R448H,CAPN3:NM_024344:exon10:c.G1343A:p.R448H | 15q15.1 | . | rs863224956 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | U | 1 | D | 2.83 | M | -2.44 | D | -4.59 | D | 0.958 | 7.719 | 35 | 1.000 | 0.995 | D | 0.868 | D | 0.851 | D | 0.638 | 0 | 5.37 | 0.917 | 1.048 | 0.998 | 0.998 | 19.314 | Deleterious |
| 1369 | 15 | 42401751 | C | T | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42401751 | 42401751 | C | T | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173087:exon10:c.C1321T:p.R441W,CAPN3:NM_000070:exon11:c.C1465T:p.R489W,CAPN3:NM_024344:exon11:c.C1465T:p.R489W | 15q15.1 | . | rs863224957 | 0.119 | T | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 2.425 | M | -2.43 | D | -7.45 | D | 0.969 | 5.394 | 26.0 | 0.998 | 0.768 | D | 0.546 | D | 0.779 | D | 0.646 | 1 | -0.179 | -0.058 | -0.008 | 0.981 | 0.995 | 13.878 | Deleterious |
| 1370 | 15 | 42401754 | C | T | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42401754 | 42401754 | C | T | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173087:exon10:c.C1324T:p.R442W,CAPN3:NM_000070:exon11:c.C1468T:p.R490W,CAPN3:NM_024344:exon11:c.C1468T:p.R490W | 15q15.1 | 7.7e-05 | rs141656719 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 3.715 | H | -2.74 | D | -7.7 | D | 0.973 | 6.279 | 29.0 | 0.998 | 0.471 | N | 0.903 | D | 0.876 | D | 0.495 | 0 | -3.67 | -0.058 | -0.008 | 0.985 | 0.990 | 18.419 | Deleterious |
| 1371 | 15 | 42401755 | G | A | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42401755 | 42401755 | G | A | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173087:exon10:c.G1325A:p.R442Q,CAPN3:NM_000070:exon11:c.G1469A:p.R490Q,CAPN3:NM_024344:exon11:c.G1469A:p.R490Q | 15q15.1 | . | rs121434548 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | A | 3.715 | H | -2.67 | D | -3.84 | D | 0.97 | 7.207 | 34 | 1.000 | 0.976 | D | 1.044 | D | 0.897 | D | 0.495 | 0 | 4.69 | 0.917 | 0.953 | 0.986 | 0.991 | 17.811 | Deleterious |
| 1372 | 15 | 42402971 | C | T | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42402971 | 42402971 | C | T | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173088:exon2:c.C178T:p.R60W,CAPN3:NM_173087:exon12:c.C1570T:p.R524W,CAPN3:NM_000070:exon13:c.C1714T:p.R572W,CAPN3:NM_024344:exon13:c.C1714T:p.R572W | 15q15.1 | . | rs863224959 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 3.875 | H | -2.66 | D | -7.44 | D | 0.997 | 7.479 | 34 | 0.999 | 0.795 | D | 0.996 | D | 0.892 | D | 0.615 | 0 | 4.03 | 0.871 | 0.935 | 0.999 | 0.998 | 12.687 | Deleterious |
| 1373 | 15 | 42402972 | G | A | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42402972 | 42402972 | G | A | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173088:exon2:c.G179A:p.R60Q,CAPN3:NM_173087:exon12:c.G1571A:p.R524Q,CAPN3:NM_000070:exon13:c.G1715A:p.R572Q,CAPN3:NM_024344:exon13:c.G1715A:p.R572Q | 15q15.1 | . | rs121434544 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | A | 3.325 | M | -2.61 | D | -3.72 | D | 0.988 | 7.573 | 34 | 1.000 | 0.965 | D | 0.958 | D | 0.867 | D | 0.615 | 0 | 4.97 | 0.917 | 1.048 | 0.999 | 0.997 | 18.414 | Deleterious |
| 1374 | 15 | 42409381 | G | T | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42409381 | 42409381 | G | T | splicing | CAPN3 | NM_000070:exon17:c.1992+1G>T,NM_173087:exon14:c.1716+1G>T,NM_024344:exon16:c.1974+1G>T,NM_173088:exon6:c.456+1G>T | . | . | 15q15.1 | . | rs863224961 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.106 | 25.3 | 0.994 | 0.988 | D | . | . | . | . | 0.162 | 0 | 5.05 | 0.917 | 0.953 | 0.925 | 0.774 | 18.609 | Deleterious (FATHMM) |
| 1375 | 15 | 42410646 | G | A | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42410646 | 42410646 | G | A | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173089:exon6:c.G248A:p.R83Q,CAPN3:NM_173090:exon7:c.G248A:p.R83Q,CAPN3:NM_173088:exon10:c.G707A:p.R236Q,CAPN3:NM_173087:exon18:c.G1967A:p.R656Q,CAPN3:NM_024344:exon20:c.G2225A:p.R742Q,CAPN3:NM_000070:exon21:c.G2243A:p.R748Q | 15q15.1 | . | rs587780290 | 0.007 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 1.985 | M | -0.1 | T | -2.95 | D | 0.966 | 7.724 | 35 | 0.999 | 0.976 | D | -0.028 | T | 0.457 | T | 0.660 | 0 | 4.54 | 0.917 | 0.953 | 1.000 | 1.000 | 17.503 | Tolerated |
| 1376 | 15 | 42410958 | G | C | Pathogenic | CAPN3 | . | . | . | . | . | . | . | . | . | . | 15 | 42410958 | 42410958 | G | C | exonic | CAPN3 | . | nonsynonymous SNV | CAPN3:NM_173089:exon7:c.G343C:p.D115H,CAPN3:NM_173090:exon8:c.G343C:p.D115H,CAPN3:NM_173088:exon11:c.G802C:p.D268H,CAPN3:NM_173087:exon19:c.G2062C:p.D688H,CAPN3:NM_024344:exon21:c.G2320C:p.D774H,CAPN3:NM_000070:exon22:c.G2338C:p.D780H | 15q15.1 | . | rs778768583 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 3.215 | M | -3.79 | D | -5.97 | D | 0.965 | 6.590 | 31 | 0.996 | 0.968 | D | 1.077 | D | 0.943 | D | 0.660 | 0 | 5.4 | 0.917 | 1.048 | 0.998 | 0.998 | 19.360 | Deleterious |
| 1377 | 15 | 43260151 | G | T | Pathogenic | TGM5 | . | . | . | . | . | . | . | . | . | . | 15 | 43260151 | 43260151 | G | T | exonic | TGM5 | . | nonsynonymous SNV | TGM5:NM_201631:exon3:c.G337A:p.G113S | 15q15.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.39 | M | -3.21 | D | -5.59 | D | 0.837 | 7.028 | 33 | 0.999 | 0.991 | D | 0.967 | D | 0.888 | D | 0.487 | 0 | 5.33 | 0.871 | 0.935 | 0.781 | 0.998 | 16.888 | Deleterious |
| 1378 | 15 | 44615524 | C | A | Pathogenic/Likely pathogenic | SPG11 | . | . | . | . | . | . | . | . | . | . | 15 | 44615524 | 44615524 | C | A | exonic | SPG11 | . | synonymous SNV | SPG11:NM_001160227:exon16:c.C2877T:p.C959C,SPG11:NM_025137:exon16:c.C2877T:p.C959C | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1379 | 15 | 44626429 | C | T | Pathogenic/Likely pathogenic | SPG11 | . | . | . | . | . | . | . | . | . | . | 15 | 44626429 | 44626429 | C | T | exonic | SPG11 | . | nonsynonymous SNV | SPG11:NM_001160227:exon11:c.C2146A:p.Q716K,SPG11:NM_025137:exon11:c.C2146A:p.Q716K | 15q21.1 | 7.7e-05 | rs312262737 | 0.331 | T | 0.996 | D | 0.895 | P | 0.001 | D | 0.999 | D | 2.14 | M | 1.38 | T | -1.17 | N | 0.666 | 1.182 | 11.65 | 0.973 | 0.918 | D | 0.105 | D | 0.588 | D | 0.707 | 0 | 5.79 | 0.917 | 1.048 | 0.988 | 0.991 | 17.809 | Deleterious |
| 1380 | 15 | 48411280 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48411280 | 48411280 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon66:c.C8326A:p.R2776R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1381 | 15 | 48412715 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48412715 | 48412715 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon65:c.C8080A:p.R2694R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1382 | 15 | 48415632 | G | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48415632 | 48415632 | G | A | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon64:c.G7955T:p.C2652F | 15q21.1 | . | . | 0.003 | D | 0.997 | D | 0.996 | D | 0.000 | D | 1 | D | 3.815 | H | -5.91 | D | -7.74 | D | 0.985 | 7.779 | 35 | 0.991 | 0.987 | D | 1.009 | D | 0.989 | D | 0.722 | 0 | 5.81 | 0.871 | 0.935 | 0.999 | 0.999 | 18.834 | Deleterious |
| 1383 | 15 | 48420700 | G | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48420700 | 48420700 | G | A | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon63:c.G7806T:p.W2602C | 15q21.1 | . | . | 0.013 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 0.55 | N | -2.22 | D | -8.03 | D | 0.912 | 7.831 | 35 | 0.994 | 0.996 | D | 0.335 | D | 0.670 | D | 0.707 | 0 | 5.96 | 0.871 | 0.935 | 1.000 | 1.000 | 20.017 | Deleterious |
| 1384 | 15 | 48420752 | T | C | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48420752 | 48420752 | T | C | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon63:c.T7754G:p.I2585S | 15q21.1 | . | . | 0.633 | T | 0.784 | P | 0.412 | B | 0.000 | D | 1.000 | D | 1.49 | L | -2.98 | D | -3.35 | D | 0.605 | 4.247 | 23.9 | 0.995 | 0.994 | D | 0.328 | D | 0.698 | D | 0.707 | 0 | 6.17 | 1.062 | 1.199 | 0.993 | 0.997 | 16.484 | Deleterious |
| 1385 | 15 | 48421651 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48421651 | 48421651 | G | A | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon62:c.G7606T:p.G2536W | 15q21.1 | . | . | 0.003 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.71 | M | -2.97 | D | -5.31 | D | 0.883 | 8.509 | 35 | 0.995 | 0.991 | D | 0.908 | D | 0.891 | D | 0.732 | 0 | 6.02 | 0.871 | 0.935 | 0.996 | 0.971 | 20.136 | Deleterious |
| 1386 | 15 | 48425865 | G | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48425865 | 48425865 | G | A | splicing | FBN1 | NM_000138:exon59:c.7205-1C>T | . | . | 15q21.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.463 | 26.1 | 0.995 | 0.990 | D | . | . | . | . | 0.322 | 0 | 6.17 | 0.871 | 0.935 | 0.897 | 0.865 | 20.474 | Deleterious (FATHMM) |
| 1387 | 15 | 48430736 | T | C | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48430736 | 48430736 | T | C | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon56:c.T6806G:p.I2269S | 15q21.1 | . | . | 0.015 | D | 0.96 | D | 0.761 | P | 0.000 | D | 1 | D | 2.295 | M | -2.98 | D | -4.75 | D | 0.9 | 6.737 | 32 | 0.995 | 0.993 | D | 0.757 | D | 0.823 | D | 0.719 | 0 | 5.91 | 1.062 | 1.199 | 0.998 | 0.995 | 16.010 | Deleterious |
| 1388 | 15 | 48432947 | C | T | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48432947 | 48432947 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon55:c.C6658A:p.R2220R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1389 | 15 | 48437347 | C | T | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48437347 | 48437347 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon52:c.C6354A:p.I2118I | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1390 | 15 | 48437912 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48437912 | 48437912 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon51:c.C6169A:p.R2057R | 15q21.1 | . | rs763091520 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1391 | 15 | 48445430 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48445430 | 48445430 | C | T | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon48:c.C5863A:p.Q1955K | 15q21.1 | . | . | 1.0 | T | 0.086 | B | 0.056 | B | 0.004 | N | 0.657 | D | 1.23 | L | -2.91 | D | -0.4 | N | 0.203 | 2.143 | 17.13 | 0.859 | 0.956 | D | -0.152 | T | 0.596 | D | 0.707 | 0 | 4.84 | 0.917 | 1.048 | 0.999 | 0.998 | 11.276 | Deleterious |
| 1392 | 15 | 48446701 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48446701 | 48446701 | G | A | intronic | FBN1 | . | . | . | 15q21.1 | . | rs193922219 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1393 | 15 | 48452603 | G | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48452603 | 48452603 | G | A | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon45:c.G5504T:p.C1835F | 15q21.1 | . | . | 0.001 | D | 0.996 | D | 0.996 | D | 0.000 | D | 1 | D | 4.41 | H | -6.49 | D | -10.16 | D | 1.0 | 7.512 | 34 | 0.993 | 0.991 | D | 0.936 | D | 0.994 | D | 0.732 | 0 | 5.49 | 0.871 | 0.935 | 0.998 | 0.999 | 19.339 | Deleterious |
| 1394 | 15 | 48456691 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48456691 | 48456691 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon44:c.C5368A:p.R1790R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1395 | 15 | 48460258 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48460258 | 48460258 | G | A | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon43:c.G5284T:p.G1762C | 15q21.1 | . | . | 0.001 | D | 1.0 | D | 0.952 | D | 0.000 | N | 1.000 | D | 2.955 | M | -1.69 | D | -6.36 | D | 0.493 | 6.154 | 28.5 | 0.995 | 0.884 | D | 0.694 | D | 0.749 | D | 0.840 | 0 | 5.23 | 0.871 | 0.935 | 0.979 | 0.974 | 16.467 | Deleterious |
| 1396 | 15 | 48465580 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48465580 | 48465580 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon40:c.C4930A:p.R1644R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1397 | 15 | 48465820 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48465820 | 48465820 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon39:c.C4786A:p.R1596R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1398 | 15 | 48468070 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48468070 | 48468070 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon38:c.C4615A:p.R1539R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1399 | 15 | 48468097 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48468097 | 48468097 | C | T | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon38:c.C4588A:p.R1530S | 15q21.1 | . | . | 0.001 | D | 0.999 | D | 0.996 | D | 0.000 | D | 1.000 | D | 1.53 | L | -3.17 | D | -5.25 | D | 0.89 | 7.084 | 33 | 0.998 | 0.981 | D | 0.660 | D | 0.829 | D | 0.707 | 0 | 5.14 | 0.917 | 1.048 | 0.973 | 1.000 | 13.386 | Deleterious |
| 1400 | 15 | 48468542 | G | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48468542 | 48468542 | G | A | intronic | FBN1 | . | . | . | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1401 | 15 | 48487431 | A | G | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48487431 | 48487431 | A | G | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon28:c.A3344C:p.D1115A | 15q21.1 | . | . | 0.002 | D | 0.662 | P | 0.357 | B | 0.000 | D | 1 | D | 3.22 | M | -3.74 | D | -6.55 | D | 0.85 | 6.059 | 28.1 | 0.997 | 0.996 | D | 0.983 | D | 0.888 | D | 0.707 | 0 | 5.6 | 0.991 | 1.061 | 0.991 | 0.986 | 15.442 | Deleterious |
| 1402 | 15 | 48488233 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48488233 | 48488233 | G | A | exonic | FBN1 | . | stopgain | FBN1:NM_000138:exon27:c.G3217T:p.E1073X | 15q21.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.085 | 49 | 0.998 | 0.993 | D | . | . | . | . | 0.707 | 0 | 6.17 | 0.871 | 0.935 | 0.990 | 0.985 | 20.474 | Deleterious (FATHMM) |
| 1403 | 15 | 48489896 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48489896 | 48489896 | G | A | exonic | FBN1 | . | stopgain | FBN1:NM_000138:exon25:c.G3037T:p.G1013X | 15q21.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.273 | 45 | 0.993 | 0.993 | D | . | . | . | . | 0.707 | 0 | 5.56 | 0.871 | 0.935 | 0.998 | 0.998 | 19.107 | Deleterious (FATHMM) |
| 1404 | 15 | 48489980 | G | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48489980 | 48489980 | G | A | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon25:c.G2953T:p.G985W | 15q21.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.045 | M | -4.42 | D | -7.47 | D | 0.959 | 7.785 | 35 | 0.996 | 0.990 | D | 1.095 | D | 0.959 | D | 0.707 | 0 | 5.66 | 0.871 | 0.935 | 0.999 | 0.604 | 19.327 | Deleterious |
| 1405 | 15 | 48495575 | C | A | Pathogenic/Likely pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48495575 | 48495575 | C | A | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon21:c.C2433T:p.C811C | 15q21.1 | . | rs193921256 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1406 | 15 | 48510065 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48510065 | 48510065 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon14:c.C1693A:p.R565R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1407 | 15 | 48510125 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48510125 | 48510125 | C | T | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon14:c.C1633A:p.R545S | 15q21.1 | . | . | 0.002 | D | 0.997 | D | 0.995 | D | 0.000 | D | 1 | D | 1.345 | L | -2.86 | D | -5.44 | D | 0.83 | 7.241 | 34 | 0.998 | 0.989 | D | 0.576 | D | 0.786 | D | 0.732 | 0 | 5.5 | 0.917 | 0.902 | 0.900 | 0.695 | 18.317 | Deleterious |
| 1408 | 15 | 48513591 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48513591 | 48513591 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon13:c.C1546A:p.R516R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1409 | 15 | 48515382 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48515382 | 48515382 | G | A | intronic | FBN1 | . | . | . | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1410 | 15 | 48516225 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48516225 | 48516225 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon11:c.C1285A:p.R429R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1411 | 15 | 48537629 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48537629 | 48537629 | C | T | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon7:c.C718A:p.R240S | 15q21.1 | . | . | 0.065 | T | 0.993 | D | 0.982 | D | 0.000 | D | 1 | D | -0.23 | N | -1.59 | D | -3.59 | D | 0.91 | 5.915 | 27.5 | 0.998 | 0.939 | D | -0.364 | T | 0.435 | T | 0.507 | 0 | 4.49 | -0.045 | 1.048 | 0.951 | 0.998 | 15.755 | Tolerated |
| 1412 | 15 | 48537704 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48537704 | 48537704 | C | T | exonic | FBN1 | . | synonymous SNV | FBN1:NM_000138:exon7:c.C643A:p.R215R | 15q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1413 | 15 | 48600217 | C | T | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48600217 | 48600217 | C | T | exonic | FBN1 | . | nonsynonymous SNV | FBN1:NM_000138:exon5:c.C364A:p.R122S | 15q21.1 | . | . | 0.361 | T | 0.997 | D | 0.987 | D | 0.000 | D | 1.000 | D | 1.13 | L | -1.46 | T | -2.49 | N | 0.877 | 5.298 | 25.7 | 0.998 | 0.943 | D | -0.239 | T | 0.525 | D | 0.707 | 0 | 6.17 | 0.917 | 1.048 | 0.990 | 0.969 | 14.149 | Deleterious |
| 1414 | 15 | 48613009 | G | A | Pathogenic | FBN1 | . | . | . | . | . | . | . | . | . | . | 15 | 48613009 | 48613009 | G | A | splicing | FBN1 | NM_000138:exon3:c.247+1C>T | . | . | 15q21.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.199 | 28.7 | 0.996 | 0.984 | D | . | . | . | . | 0.162 | 0 | 5.12 | 0.871 | 0.892 | 0.996 | 1.000 | 18.742 | Deleterious (FATHMM) |
| 1415 | 15 | 63057028 | T | C | Pathogenic | TPM1 | . | . | . | . | . | . | . | . | . | . | 15 | 63057028 | 63057028 | T | C | exonic | TPM1 | . | nonsynonymous SNV | TPM1:NM_001018008:exon2:c.T176C:p.V59A,TPM1:NM_001301289:exon2:c.T176C:p.V59A,TPM1:NM_000366:exon3:c.T284C:p.V95A,TPM1:NM_001018004:exon3:c.T284C:p.V95A,TPM1:NM_001018005:exon3:c.T284C:p.V95A,TPM1:NM_001018006:exon3:c.T284C:p.V95A,TPM1:NM_001018007:exon3:c.T284C:p.V95A,TPM1:NM_001018020:exon3:c.T284C:p.V95A,TPM1:NM_001301244:exon3:c.T284C:p.V95A | 15q22.2 | . | rs104894504 | 0.001 | D | 0.954 | P | 0.97 | D | 0.000 | D | 1 | A | 3.67 | H | -4.48 | D | -2.79 | D | 0.913 | 4.855 | 24.9 | 0.967 | 0.934 | D | 1.096 | D | 0.963 | D | 0.672 | 0 | 5.72 | 0.991 | 1.011 | 1.000 | 1.000 | 15.181 | Deleterious |
| 1416 | 15 | 63060899 | G | A | Pathogenic | TPM1 | . | . | . | . | . | . | . | . | . | . | 15 | 63060899 | 63060899 | G | A | exonic | TPM1 | . | nonsynonymous SNV | TPM1:NM_001018008:exon4:c.G415A:p.D139N,TPM1:NM_001301289:exon4:c.G415A:p.D139N,TPM1:NM_000366:exon5:c.G523A:p.D175N,TPM1:NM_001018004:exon5:c.G523A:p.D175N,TPM1:NM_001018005:exon5:c.G523A:p.D175N,TPM1:NM_001018006:exon5:c.G523A:p.D175N,TPM1:NM_001018007:exon5:c.G523A:p.D175N,TPM1:NM_001018020:exon5:c.G523A:p.D175N,TPM1:NM_001301244:exon5:c.G523A:p.D175N | 15q22.2 | . | rs104894503 | 0.042 | D | 0.986 | D | 0.926 | D | 0.000 | D | 1 | A | 3.23 | M | -4.83 | D | -3.13 | D | 0.382 | 6.691 | 32 | 0.998 | 0.972 | D | 1.095 | D | 0.970 | D | 0.672 | 0 | 5.8 | 0.917 | 0.998 | 0.990 | 0.996 | 19.038 | Deleterious |
| 1417 | 15 | 63062263 | G | A | Pathogenic | TPM1 | . | . | . | . | . | . | . | . | . | . | 15 | 63062263 | 63062263 | G | A | exonic | TPM1 | . | nonsynonymous SNV | TPM1:NM_001018008:exon6:c.G580A:p.D194N,TPM1:NM_001301289:exon6:c.G580A:p.D194N,TPM1:NM_000366:exon7:c.G688A:p.D230N,TPM1:NM_001018004:exon7:c.G688A:p.D230N,TPM1:NM_001018005:exon7:c.G688A:p.D230N,TPM1:NM_001018006:exon7:c.G688A:p.D230N,TPM1:NM_001018007:exon7:c.G688A:p.D230N,TPM1:NM_001018020:exon7:c.G688A:p.D230N,TPM1:NM_001301244:exon7:c.G688A:p.D230N | 15q22.2 | . | rs199476317 | 0.057 | T | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.65 | M | -1.21 | T | -2.57 | D | 0.254 | 5.806 | 27.1 | 0.998 | 0.977 | D | 0.176 | D | 0.657 | D | 0.672 | 0 | 5.84 | 0.917 | 1.048 | 1.000 | 0.998 | 19.123 | Deleterious |
| 1418 | 15 | 65021533 | C | T | Pathogenic | MTFMT | . | . | . | . | . | . | . | . | . | . | 15 | 65021533 | 65021533 | C | T | exonic | MTFMT | . | stopgain | MTFMT:NM_139242:exon4:c.C626A:p.S209X | 15q22.31 | . | . | . | . | . | . | . | . | 0.001 | N | 1 | A | . | . | . | . | . | . | . | 12.536 | 39 | 0.984 | 0.996 | D | . | . | . | . | 0.706 | 0 | 5.48 | 0.917 | 1.048 | 0.984 | 0.996 | 18.117 | Deleterious (FATHMM) |
| 1419 | 15 | 66435145 | G | A | Pathogenic | MAP2K1 | . | . | . | . | . | . | . | . | . | . | 15 | 66435145 | 66435145 | G | A | exonic | MAP2K1 | . | nonsynonymous SNV | MAP2K1:NM_002755:exon2:c.G199A:p.D67N | 15q22.31 | . | rs727504317 | 0.021 | D | 0.999 | D | 0.928 | D | 0.000 | D | 1 | D | 2.25 | M | -3.3 | D | -3.3 | D | 0.126 | 5.390 | 26.0 | 0.999 | 0.990 | D | -0.304 | T | 0.395 | T | 0.737 | 0 | 5.24 | 0.917 | 0.902 | 0.998 | 0.998 | 17.830 | Tolerated |
| 1420 | 15 | 66436837 | G | T | Pathogenic/Likely pathogenic | MAP2K1 | . | . | . | . | . | . | . | . | . | . | 15 | 66436837 | 66436837 | G | T | exonic | MAP2K1 | . | nonsynonymous SNV | MAP2K1:NM_002755:exon3:c.G383T:p.G128V | 15q22.31 | . | rs121908596 | 0.002 | D | 0.999 | D | 0.993 | D | 0.000 | D | 1 | A | 0.975 | L | -3.25 | D | -8.33 | D | 0.992 | 6.735 | 32 | 0.998 | 0.993 | D | 0.748 | D | 0.826 | D | 0.707 | 0 | 5.15 | 0.917 | 0.953 | 0.998 | 0.999 | 18.656 | Deleterious |
| 1421 | 15 | 66436843 | A | G | Pathogenic | MAP2K1 | . | . | . | . | . | . | . | . | . | . | 15 | 66436843 | 66436843 | A | G | exonic | MAP2K1 | . | nonsynonymous SNV | MAP2K1:NM_002755:exon3:c.A389G:p.Y130C | 15q22.31 | . | rs121908595 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 3.005 | M | -3.39 | D | -7.94 | D | 0.987 | 6.344 | 29.3 | 0.998 | 0.991 | D | 1.030 | D | 0.904 | D | 0.707 | 0 | 5.15 | 1.062 | 1.088 | 0.995 | 0.995 | 15.008 | Deleterious |
| 1422 | 15 | 71811481 | A | C | Pathogenic/Likely pathogenic | NR2E3 | . | . | . | . | . | . | . | . | . | . | 15 | 71811481 | 71811481 | A | C | splicing | NR2E3 | NM_014249:exon2:c.119-2A>C,NM_016346:exon2:c.119-2A>C | . | . | 15q23 | . | rs2723341 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | 2.258 | 17.89 | 0.936 | 0.763 | D | . | . | . | . | 0.057 | 0 | 3.69 | 0.936 | 1.030 | 0.691 | 0.947 | 6.843 | Deleterious (FATHMM) |
| 1423 | 15 | 71811530 | G | A | Pathogenic/Likely pathogenic | NR2E3 | . | . | . | . | . | . | . | . | . | . | 15 | 71811530 | 71811530 | G | A | exonic | NR2E3 | . | nonsynonymous SNV | NR2E3:NM_014249:exon2:c.G166A:p.G56R,NR2E3:NM_016346:exon2:c.G166A:p.G56R | 15q23 | . | rs121912631 | . | . | 1.0 | D | 0.999 | D | 0.000 | D | . | . | 3.2 | M | . | . | . | . | 0.791 | 2.094 | 16.82 | 0.928 | 0.986 | D | 0.277 | D | 0.480 | T | 0.056 | 0 | 3.98 | 0.809 | 0.903 | 0.999 | 0.978 | 10.837 | Tolerated |
| 1424 | 15 | 71813573 | G | A | Pathogenic/Likely pathogenic | NR2E3 | . | . | . | . | . | . | . | . | . | . | 15 | 71813573 | 71813573 | G | A | exonic | NR2E3 | . | nonsynonymous SNV | NR2E3:NM_014249:exon6:c.G932A:p.R311Q,NR2E3:NM_016346:exon6:c.G932A:p.R311Q | 15q23 | 0.0002 | rs28937873 | . | . | 0.627 | P | 0.171 | B | 0.000 | D | . | . | 1.415 | L | . | . | . | . | 0.244 | 1.690 | 14.35 | 0.821 | 0.781 | D | -0.980 | T | 0.048 | T | 0.078 | 0 | 3.32 | 0.032 | 1.048 | 0.052 | 0.467 | 2.557 | Tolerated |
| 1425 | 15 | 72345476 | G | A | Pathogenic/Likely pathogenic | HEXA | . | . | . | . | . | . | . | . | . | . | 15 | 72345476 | 72345476 | G | A | exonic | HEXA | . | nonsynonymous SNV | HEXA:NM_000520:exon13:c.G1496T:p.R499L | 15q23 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.52 | H | -4.45 | D | -6.5 | D | 0.991 | 7.047 | 33 | 0.998 | 0.994 | D | 1.091 | D | 0.966 | D | 0.732 | 0 | 5.71 | 0.871 | 0.935 | 0.093 | 0.024 | 19.868 | Deleterious |
| 1426 | 15 | 72348047 | G | A | Pathogenic | HEXA | . | . | . | . | . | . | . | . | . | . | 15 | 72348047 | 72348047 | G | A | splicing | HEXA | NM_000520:exon9:c.1073+1C>T | . | . | 15q23 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.357 | 29.4 | 0.996 | 0.995 | D | . | . | . | . | 0.295 | 0 | 5.55 | 0.871 | 0.852 | 0.995 | 1.000 | 17.685 | Deleterious (FATHMM) |
| 1427 | 15 | 72350518 | G | A | Pathogenic | HEXA | . | . | . | . | . | . | . | . | . | . | 15 | 72350518 | 72350518 | G | A | exonic | HEXA | . | nonsynonymous SNV | HEXA:NM_000520:exon7:c.G805T:p.G269C | 15q23 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.555 | H | -3.77 | D | -8.5 | D | 0.919 | 7.693 | 35 | 0.997 | 0.998 | D | 1.081 | D | 0.951 | D | 0.732 | 0 | 5.87 | 0.871 | 0.852 | 0.989 | 1.000 | 20.223 | Deleterious |
| 1428 | 15 | 72355562 | C | T | Pathogenic | HEXA | . | . | . | . | . | . | . | . | . | . | 15 | 72355562 | 72355562 | C | T | exonic | HEXA | . | synonymous SNV | HEXA:NM_000520:exon3:c.C409A:p.R137R | 15q23 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1429 | 15 | 72375971 | T | C | Pathogenic/Likely pathogenic | HEXA | . | . | . | . | . | . | . | . | . | . | 15 | 72375971 | 72375971 | T | C | exonic | HEXA | . | nonsynonymous SNV | HEXA:NM_000520:exon1:c.T2G:p.M1R | 15q23 | . | . | 0.0 | D | 0.0 | B | 0.001 | B | 0.065 | N | 1 | D | . | . | -4.07 | D | -1.02 | N | 0.834 | 3.561 | 23.1 | 0.963 | 0.954 | D | 0.310 | D | 0.740 | D | 0.442 | 0 | 2.19 | 1.062 | 1.088 | 0.010 | 0.270 | 4.084 | Deleterious |
| 1430 | 15 | 76274431 | C | T | Pathogenic/Likely pathogenic | ETFA | . | . | . | . | . | . | . | . | . | . | 15 | 76274431 | 76274431 | C | T | exonic | ETFA | . | nonsynonymous SNV | ETFA:NM_001127716:exon8:c.C650A:p.T217K,ETFA:NM_000126:exon9:c.C797A:p.T266K | 15q24.2 | . | . | 0.001 | D | 1.0 | D | 0.971 | D | 0.000 | D | 1 | D | 4.94 | H | -3.32 | D | -5.59 | D | 0.928 | 7.618 | 34 | 0.993 | 0.986 | D | 1.090 | D | 0.954 | D | 0.781 | 0 | 5.91 | 0.917 | 1.044 | 0.998 | 0.995 | 18.865 | Deleterious |
| 1431 | 15 | 76311387 | T | C | Pathogenic/Likely pathogenic | ETFA | . | . | . | . | . | . | . | . | . | . | 15 | 76311387 | 76311387 | T | C | exonic | ETFA | . | nonsynonymous SNV | ETFA:NM_000126:exon1:c.T2G:p.M1R,ETFA:NM_001127716:exon1:c.T2G:p.M1R | 15q24.3 | . | . | 0.001 | D | 0.676 | P | 0.227 | B | 0.000 | D | 1 | D | . | . | -1.38 | T | 0.53 | N | 0.867 | 2.494 | 19.43 | 0.820 | 0.928 | D | 0.251 | D | 0.621 | D | 0.442 | 0 | 3.42 | 0.722 | 1.002 | 0.295 | 0.288 | 8.549 | Deleterious |
| 1432 | 15 | 80168263 | G | T | Pathogenic | FAH | . | . | . | . | . | . | . | . | . | . | 15 | 80168263 | 80168263 | G | T | splicing | FAH | NM_000137:exon7:c.554-1G>T | . | . | 15q25.1 | 0.0002 | rs80338895 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 3.571 | 23.1 | 0.989 | 0.996 | D | . | . | . | . | 0.295 | 0 | 5.58 | 0.917 | 1.048 | 0.740 | 0.148 | 18.346 | Deleterious (FATHMM) |
| 1433 | 15 | 80173089 | C | T | Pathogenic | FAH | . | . | . | . | . | . | . | . | . | . | 15 | 80173089 | 80173089 | C | T | exonic | FAH | . | nonsynonymous SNV | FAH:NM_000137:exon9:c.C782T:p.P261L | 15q25.1 | 7.7e-05 | rs80338898 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 4.51 | H | -5.68 | D | -9.41 | D | 0.983 | 6.422 | 29.7 | 0.998 | 0.914 | D | 0.968 | D | 0.989 | D | 0.737 | 0 | 4.58 | 0.871 | 0.852 | 0.999 | 0.759 | 16.126 | Deleterious |
| 1434 | 15 | 80180230 | G | A | Pathogenic | FAH | . | . | . | . | . | . | . | . | . | . | 15 | 80180230 | 80180230 | G | A | intronic | FAH | . | . | . | 15q25.1 | 0.0005 | rs80338901 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1435 | 15 | 89319065 | C | T | Pathogenic/Likely pathogenic | POLG | . | . | . | . | . | . | . | . | . | . | 15 | 89319065 | 89319065 | C | T | exonic | POLG | . | synonymous SNV | POLG:NM_001126131:exon20:c.C3139A:p.R1047R,POLG:NM_002693:exon20:c.C3139A:p.R1047R | 15q26.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1436 | 15 | 89320877 | C | T | Pathogenic/Likely pathogenic | POLG | . | . | . | . | . | . | . | . | . | . | 15 | 89320877 | 89320877 | C | T | exonic | POLG | . | nonsynonymous SNV | POLG:NM_001126131:exon18:c.C2870A:p.A957D,POLG:NM_002693:exon18:c.C2870A:p.A957D | 15q26.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.205 | M | -5.19 | D | -5.66 | D | 0.996 | 6.289 | 29.1 | 0.998 | 0.978 | D | 1.080 | D | 0.977 | D | 0.672 | 0 | 5.24 | 0.917 | 1.048 | 0.998 | 0.973 | 18.819 | Deleterious |
| 1437 | 15 | 89321007 | A | C | Pathogenic | POLG | . | . | . | . | . | . | . | . | . | . | 15 | 89321007 | 89321007 | A | C | exonic | POLG | . | nonsynonymous SNV | POLG:NM_001126131:exon18:c.A2740G:p.T914A,POLG:NM_002693:exon18:c.A2740G:p.T914A | 15q26.1 | . | . | 0.0 | D | 0.999 | D | 0.996 | D | 0.000 | D | 1 | D | 3.07 | M | -4.18 | D | -4.78 | D | 0.915 | 4.820 | 24.8 | 0.998 | 0.981 | D | 1.095 | D | 0.945 | D | 0.672 | 0 | 5.24 | 0.991 | 1.061 | 0.987 | 0.998 | 15.135 | Deleterious |
| 1438 | 15 | 89321792 | G | A | Pathogenic | POLG | . | . | . | . | . | . | . | . | . | . | 15 | 89321792 | 89321792 | G | A | exonic | POLG | . | nonsynonymous SNV | POLG:NM_001126131:exon16:c.G2542T:p.G848C,POLG:NM_002693:exon16:c.G2542T:p.G848C | 15q26.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.245 | M | -5.35 | D | -8.9 | D | 0.978 | 7.405 | 34 | 0.998 | 0.994 | D | 1.065 | D | 0.979 | D | 0.672 | 0 | 4.56 | 0.871 | 0.935 | 0.999 | 0.995 | 15.416 | Deleterious |
| 1439 | 15 | 89323426 | G | C | Pathogenic | POLG | . | . | . | . | . | . | . | . | . | . | 15 | 89323426 | 89323426 | G | C | exonic | POLG | . | synonymous SNV | POLG:NM_001126131:exon13:c.G2243G:p.W748W,POLG:NM_002693:exon13:c.G2243G:p.W748W | 15q26.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1440 | 15 | 89327201 | G | A | Pathogenic | POLG | . | . | . | . | . | . | . | . | . | . | 15 | 89327201 | 89327201 | G | A | exonic | POLG | . | nonsynonymous SNV | POLG:NM_001126131:exon7:c.G1399T:p.A467S,POLG:NM_002693:exon7:c.G1399T:p.A467S | 15q26.1 | . | . | 0.046 | D | 0.999 | D | 0.991 | D | 0.000 | D | 1 | D | 2.265 | M | -3.1 | D | -2.48 | N | 0.69 | 6.027 | 27.9 | 0.997 | 0.991 | D | 0.872 | D | 0.864 | D | 0.707 | 0 | 5.0 | 0.871 | 0.892 | 0.996 | 0.980 | 18.482 | Deleterious |
| 1441 | 15 | 89631662 | G | T | Pathogenic | KIF7 | . | . | . | . | . | . | . | . | . | . | 15 | 89631662 | 89631662 | G | T | exonic | KIF7 | . | nonsynonymous SNV | KIF7:NM_198525:exon15:c.G2944A:p.E982K | 15q26.1 | . | . | 0.003 | D | 0.999 | D | 0.995 | D | 0.000 | D | 1 | D | 2.175 | M | 1.01 | T | -3.34 | D | 0.594 | 7.151 | 34 | 0.999 | 0.966 | D | -0.720 | T | 0.257 | T | 0.672 | 0 | 5.18 | 0.871 | 0.935 | 0.997 | 1.000 | 18.683 | Tolerated |
| 1442 | 15 | 89652870 | C | T | Pathogenic | KIF7 | . | . | . | . | . | . | . | . | . | . | 15 | 89652870 | 89652870 | C | T | exonic | KIF7 | . | synonymous SNV | KIF7:NM_198525:exon2:c.C61A:p.R21R | 15q26.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1443 | 15 | 90088702 | G | A | Pathogenic | IDH2 | . | . | . | . | . | . | . | . | . | . | 15 | 90088702 | 90088702 | G | A | exonic | IDH2 | . | nonsynonymous SNV | IDH2:NM_001290114:exon2:c.G29T:p.R10L,IDH2:NM_001289910:exon4:c.G263T:p.R88L,IDH2:NM_002168:exon4:c.G419T:p.R140L | 15q26.1 | . | . | 0.0 | D | 0.996 | D | 0.964 | D | 0.000 | D | 1 | D | 3.89 | H | -2.23 | D | -6.58 | D | 0.988 | 5.978 | 27.8 | 0.998 | 0.988 | D | 0.907 | D | 0.846 | D | 0.745 | 0 | 4.75 | 0.871 | 0.935 | 0.990 | 1.000 | 12.446 | Deleterious |
| 1444 | 15 | 90761015 | C | T | Pathogenic | BLM | . | . | . | . | . | . | . | . | . | . | 15 | 90761015 | 90761015 | C | T | exonic | BLM | . | stopgain | BLM:NM_000057:exon7:c.C1642T:p.Q548X,BLM:NM_001287247:exon7:c.C1642T:p.Q548X,BLM:NM_001287248:exon7:c.C517T:p.Q173X,BLM:NM_001287246:exon8:c.C1642T:p.Q548X | 15q26.1 | 0.0002 | rs200389141 | . | . | . | . | . | . | 0.687 | N | 1 | A | . | . | . | . | . | . | . | 9.073 | 35 | 0.997 | 0.879 | D | . | . | . | . | 0.707 | 0 | 4.93 | 0.033 | 0.892 | 0.001 | 0.064 | 13.900 | Deleterious (FATHMM) |
| 1445 | 15 | 90784953 | C | T | Pathogenic/Likely pathogenic | BLM | . | . | . | . | . | . | . | . | . | . | 15 | 90784953 | 90784953 | C | T | exonic | BLM | . | stopgain | BLM:NM_000057:exon14:c.C2695T:p.R899X,BLM:NM_001287247:exon14:c.C2695T:p.R899X,BLM:NM_001287248:exon14:c.C1570T:p.R524X,BLM:NM_001287246:exon15:c.C2695T:p.R899X | 15q26.1 | . | rs587779884 | . | . | . | . | . | . | 0.006 | N | 1 | A | . | . | . | . | . | . | . | 11.042 | 37 | 0.992 | 0.387 | N | . | . | . | . | 0.732 | 0 | 0.359 | -0.022 | -1.151 | 0.974 | 0.872 | 8.760 | Deleterious (DANN) |
| 1446 | 16 | 2057179 | G | A | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2057179 | 2057179 | G | A | splicing | TSC2 | NM_001077183:exon9:c.848+1G>A,NM_000548:exon9:c.848+1G>A,NM_001114382:exon9:c.848+1G>A | . | . | 16p13.3 | . | rs45466296 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.147 | 23.8 | 0.993 | 0.971 | D | . | . | . | . | 0.257 | 0 | 4.65 | 0.917 | 0.953 | 0.976 | 0.703 | 17.876 | Deleterious (FATHMM) |
| 1447 | 16 | 2074254 | T | C | Pathogenic/Likely pathogenic, not provided | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2074254 | 2074254 | T | C | exonic | TSC2 | . | nonsynonymous SNV | TSC2:NM_000548:exon22:c.T2410C:p.C804R,TSC2:NM_001077183:exon22:c.T2410C:p.C804R,TSC2:NM_001114382:exon22:c.T2410C:p.C804R | 16p13.3 | . | rs137853995 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.66 | M | -3.23 | D | -9.7 | D | 0.989 | 5.546 | 26.4 | 0.998 | 0.985 | D | 1.000 | D | 0.893 | D | 0.707 | 0 | 5.35 | 0.991 | 0.913 | 0.996 | 0.952 | 15.327 | Deleterious |
| 1448 | 16 | 2076142 | G | A | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2076142 | 2076142 | G | A | exonic | TSC2 | . | nonsynonymous SNV | TSC2:NM_000548:exon24:c.G2714A:p.R905Q,TSC2:NM_001077183:exon24:c.G2714A:p.R905Q,TSC2:NM_001114382:exon24:c.G2714A:p.R905Q | 16p13.3 | . | rs45517259 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | A | 2.165 | M | -3.58 | D | -3.61 | D | 0.978 | 7.568 | 34 | 1.000 | 0.991 | D | 1.077 | D | 0.930 | D | 0.707 | 0 | 5.09 | 0.917 | 0.949 | 0.998 | 0.998 | 18.513 | Deleterious |
| 1449 | 16 | 2080179 | C | T | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2080179 | 2080179 | C | T | exonic | TSC2 | . | stopgain | TSC2:NM_001077183:exon29:c.C3280T:p.R1094X,TSC2:NM_000548:exon30:c.C3412T:p.R1138X,TSC2:NM_001114382:exon30:c.C3412T:p.R1138X | 16p13.3 | . | rs45451497 | . | . | . | . | . | . | 0.004 | N | 1 | A | . | . | . | . | . | . | . | 13.057 | 41 | 0.997 | 0.986 | D | . | . | . | . | 0.707 | 0 | 4.74 | 0.871 | 0.932 | 0.923 | 0.121 | 12.803 | Deleterious (FATHMM) |
| 1450 | 16 | 2080365 | C | T | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2080365 | 2080365 | C | T | exonic | TSC2 | . | nonsynonymous SNV | TSC2:NM_001077183:exon29:c.C3466T:p.R1156W,TSC2:NM_000548:exon30:c.C3598T:p.R1200W,TSC2:NM_001114382:exon30:c.C3598T:p.R1200W | 16p13.3 | . | rs45438205 | 0.0 | D | 1.0 | D | 1.0 | D | 0.001 | D | 1 | D | 2.045 | M | -3.41 | D | -7.04 | D | 0.992 | 8.354 | 35 | 0.999 | 0.870 | D | 1.009 | D | 0.895 | D | 0.707 | 0 | 4.74 | 0.871 | 0.932 | 0.998 | 0.999 | 17.743 | Deleterious |
| 1451 | 16 | 2084597 | C | T | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2084597 | 2084597 | C | T | exonic | TSC2 | . | stopgain | TSC2:NM_001077183:exon32:c.C4174T:p.R1392X,TSC2:NM_001114382:exon33:c.C4306T:p.R1436X,TSC2:NM_000548:exon34:c.C4375T:p.R1459X | 16p13.3 | . | rs45517340 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.746 | 40 | 0.998 | 0.622 | D | . | . | . | . | 0.672 | 0 | 3.02 | -0.048 | -0.055 | 0.991 | 0.929 | 7.434 | Deleterious (FATHMM) |
| 1452 | 16 | 2088117 | G | A | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2088117 | 2088117 | G | A | exonic | TSC2 | . | nonsynonymous SNV | TSC2:NM_001077183:exon38:c.G4937A:p.R1646H,TSC2:NM_001114382:exon39:c.G5069A:p.R1690H,TSC2:NM_000548:exon40:c.G5138A:p.R1713H | 16p13.3 | . | rs45517395 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.255 | M | -3.51 | D | -4.52 | D | 0.936 | 6.265 | 29.0 | 0.999 | 0.976 | D | 1.086 | D | 0.927 | D | 0.632 | 0 | 4.51 | 0.917 | 0.898 | 0.985 | 0.712 | 17.245 | Deleterious |
| 1453 | 16 | 2088293 | C | T | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2088293 | 2088293 | C | T | exonic | TSC2 | . | nonsynonymous SNV | TSC2:NM_001077183:exon39:c.C5026T:p.R1676W,TSC2:NM_001114382:exon40:c.C5158T:p.R1720W,TSC2:NM_000548:exon41:c.C5227T:p.R1743W | 16p13.3 | . | rs45517412 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.21 | M | -4.29 | D | -7.26 | D | 0.967 | 7.192 | 34 | 0.999 | 0.639 | D | 1.073 | D | 0.948 | D | 0.672 | 0 | 0.035 | 0.067 | -0.202 | 0.960 | 0.905 | 13.319 | Deleterious |
| 1454 | 16 | 2088294 | G | A | Pathogenic | TSC2 | . | . | . | . | . | . | . | . | . | . | 16 | 2088294 | 2088294 | G | A | exonic | TSC2 | . | nonsynonymous SNV | TSC2:NM_001077183:exon39:c.G5027A:p.R1676Q,TSC2:NM_001114382:exon40:c.G5159A:p.R1720Q,TSC2:NM_000548:exon41:c.G5228A:p.R1743Q | 16p13.3 | . | rs45507199 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.21 | M | -4.23 | D | -3.63 | D | 0.971 | 7.553 | 34 | 1.000 | 0.958 | D | 1.106 | D | 0.957 | D | 0.672 | 0 | 4.21 | 0.917 | 0.898 | 0.956 | 0.926 | 16.949 | Deleterious |
| 1455 | 16 | 2317763 | A | T | Pathogenic/Likely pathogenic | ABCA3 | . | . | . | . | . | . | . | . | . | . | 16 | 2317763 | 2317763 | A | T | exonic | ABCA3 | . | synonymous SNV | ABCA3:NM_001089:exon9:c.A875A:p.E292E | 16p13.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1456 | 16 | 2496872 | C | T | Pathogenic | TBC1D24 | . | . | . | . | . | . | . | . | . | . | 16 | 2496872 | 2496872 | C | T | exonic | TBC1D24 | . | nonsynonymous SNV | TBC1D24:NM_001199107:exon2:c.C724T:p.R242C,TBC1D24:NM_020705:exon2:c.C724T:p.R242C | 16p13.3 | . | rs398122965 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.835 | M | 1.85 | T | -7.82 | D | 0.996 | 5.813 | 27.2 | 0.999 | 0.935 | D | -0.618 | T | 0.196 | T | 0.615 | 0 | 4.2 | -0.058 | 0.845 | 0.921 | 0.865 | 15.343 | Tolerated |
| 1457 | 16 | 3243205 | G | A | Pathogenic | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243205 | 3243205 | G | A | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.G2282T:p.R761L | 16p13.3 | . | . | 0.191 | T | 0.064 | B | 0.071 | B | 0.143 | N | 1 | N | -0.37 | N | 0.21 | T | -2.05 | N | 0.373 | 1.226 | 11.88 | 0.943 | 0.025 | N | -1.020 | T | 0.077 | T | 0.497 | 0 | 1.26 | 0.057 | -0.277 | 0.645 | 0.237 | 6.360 | Tolerated |
| 1458 | 16 | 3243257 | G | T | Pathogenic/Likely pathogenic, not provided | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243257 | 3243257 | G | T | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.G2230A:p.A744T | 16p13.3 | . | . | 1.0 | T | 0.0 | B | 0.0 | B | 0.065 | N | 1 | D | -2.405 | N | -0.31 | T | 2.32 | N | 0.287 | -1.628 | 0.002 | 0.243 | 0.017 | N | -0.886 | T | 0.033 | T | 0.497 | 0 | -3.05 | -2.094 | -0.760 | 0.009 | 0.000 | 4.186 | Tolerated |
| 1459 | 16 | 3243310 | T | C | Pathogenic | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243310 | 3243310 | T | C | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.T2177G:p.V726G | 16p13.3 | . | . | 0.13 | T | 0.001 | B | 0.003 | B | 0.016 | N | 1 | N | -0.885 | N | -0.26 | T | -0.74 | N | 0.258 | 0.186 | 4.526 | 0.677 | 0.059 | N | -1.034 | T | 0.092 | T | 0.497 | 0 | -0.518 | -0.056 | -0.353 | 0.161 | 0.001 | 3.080 | Tolerated |
| 1460 | 16 | 3243403 | A | G | Pathogenic/Likely pathogenic, not provided | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243403 | 3243403 | A | G | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.A2084C:p.K695T | 16p13.3 | . | . | 0.051 | T | 0.994 | D | 0.931 | D | 0.965 | N | 1 | N | 2.215 | M | 0.11 | T | -1.99 | N | 0.657 | 1.868 | 15.39 | 0.995 | 0.155 | N | -0.871 | T | 0.287 | T | 0.516 | 0 | 0.964 | 0.018 | 0.964 | 0.087 | 0.609 | 1.633 | Tolerated |
| 1461 | 16 | 3243405 | G | A | Pathogenic | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243405 | 3243405 | G | A | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.G2082T:p.M694I | 16p13.3 | . | . | 0.344 | T | 0.786 | P | 0.337 | B | 0.587 | N | 1 | N | 1.315 | L | -0.3 | T | -1.79 | N | 0.858 | -0.382 | 0.427 | 0.631 | 0.142 | N | -0.930 | T | 0.184 | T | 0.516 | 0 | -1.75 | 0.008 | 0.700 | 0.237 | 0.853 | 5.000 | Tolerated |
| 1462 | 16 | 3243407 | A | G | Pathogenic | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243407 | 3243407 | A | G | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.A2080C:p.M694L | 16p13.3 | . | . | 1.0 | T | 0.01 | B | 0.022 | B | 0.587 | N | 1.000 | N | 0.485 | N | -0.24 | T | -1.16 | N | 0.881 | -1.290 | 0.005 | 0.279 | 0.708 | D | -0.990 | T | 0.138 | T | 0.516 | 0 | 2.15 | 0.054 | 0.789 | 0.396 | 0.921 | 4.659 | Tolerated |
| 1463 | 16 | 3243447 | G | C | Pathogenic | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243447 | 3243447 | G | C | exonic | MEFV | . | synonymous SNV | MEFV:NM_000243:exon10:c.G2040G:p.M680M | 16p13.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1464 | 16 | 3243529 | G | A | Pathogenic | MEFV | . | . | . | . | . | . | . | . | . | . | 16 | 3243529 | 3243529 | G | A | exonic | MEFV | . | nonsynonymous SNV | MEFV:NM_000243:exon10:c.G1958T:p.R653L | 16p13.3 | . | . | 0.015 | D | 0.032 | B | 0.031 | B | 0.870 | N | 1 | N | 0.975 | L | 0.22 | T | -1.84 | N | 0.366 | 2.666 | 20.6 | 0.979 | 0.038 | N | -0.933 | T | 0.144 | T | 0.554 | 0 | 1.62 | -0.845 | 0.085 | 0.006 | 0.065 | 8.039 | Tolerated |
| 1465 | 16 | 3749631 | G | A | Pathogenic | CREBBP | . | . | . | . | . | . | . | . | . | . | 16 | 3749631 | 3749631 | G | A | exonic | CREBBP | . | stopgain | CREBBP:NM_001079846:exon20:c.G3718T:p.E1240X,CREBBP:NM_004380:exon21:c.G3832T:p.E1278X | 16p13.3 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.653 | 47 | 0.997 | 0.984 | D | . | . | . | . | 0.732 | 0 | 5.81 | 0.871 | 0.935 | 0.999 | 0.988 | 18.646 | Deleterious (FATHMM) |
| 1466 | 16 | 3751725 | G | A | Pathogenic | CREBBP | . | . | . | . | . | . | . | . | . | . | 16 | 3751725 | 3751725 | G | A | splicing | CREBBP | NM_004380:exon20:c.3779+1C>T,NM_001079846:exon19:c.3665+1C>T | . | . | 16p13.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.289 | 25.7 | 0.995 | 0.989 | D | . | . | . | . | 0.295 | 0 | 5.35 | 0.871 | 0.935 | 0.999 | 1.000 | 19.073 | Deleterious (FATHMM) |
| 1467 | 16 | 5082565 | C | T | Pathogenic/Likely pathogenic | ALG1 | . | . | . | . | . | . | . | . | . | . | 16 | 5082565 | 5082565 | C | T | exonic | ALG1 | . | nonsynonymous SNV | ALG1:NM_019109:exon11:c.C1079T:p.A360V | 16p13.3 | . | rs398124348 | 0.031 | D | 0.998 | D | 0.94 | D | 0.000 | D | 1 | D | 3.27 | M | -2.27 | D | -3.26 | D | 0.908 | 6.895 | 33 | 0.999 | 0.901 | D | 0.789 | D | 0.806 | D | 0.660 | 0 | 4.33 | 0.871 | 0.062 | 0.870 | 0.866 | 12.079 | Deleterious |
| 1468 | 16 | 8811088 | C | A | Pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8811088 | 8811088 | C | A | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon5:c.C357A:p.F119L | 16p13.2 | . | rs80338701 | 0.001 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | A | 3.635 | H | -5.43 | D | -5.82 | D | 0.973 | 6.825 | 32 | 0.997 | 0.930 | D | 1.114 | D | 0.979 | D | 0.707 | 0 | 5.43 | 0.871 | 0.888 | 1.000 | 0.996 | 9.941 | Deleterious |
| 1469 | 16 | 8811116 | G | A | Pathogenic/Likely pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8811116 | 8811116 | G | A | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon5:c.G385A:p.V129M | 16p13.2 | . | rs104894525 | 0.001 | D | 1.0 | D | 0.982 | D | 0.000 | D | 1 | A | 3.165 | M | -5.21 | D | -2.25 | N | 0.871 | 6.466 | 29.9 | 0.999 | 0.894 | D | 1.084 | D | 0.976 | D | 0.707 | 0 | 5.43 | 0.917 | 0.994 | 0.992 | 0.997 | 18.231 | Deleterious |
| 1470 | 16 | 8811153 | G | A | Pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8811153 | 8811153 | G | A | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon5:c.G422A:p.R141H | 16p13.2 | 0.0039 | rs28936415 | 0.033 | D | 0.993 | D | 0.51 | P | 0.000 | D | 1 | A | 3.635 | H | -5.59 | D | -4.8 | D | 0.955 | 7.497 | 34 | 0.999 | 0.974 | D | 0.763 | D | 0.951 | D | 0.707 | 0 | 5.43 | 0.917 | 0.994 | 0.995 | 0.998 | 18.231 | Deleterious |
| 1471 | 16 | 8811660 | T | C | Pathogenic/Likely pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8811660 | 8811660 | T | C | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon6:c.T470C:p.F157S | 16p13.2 | 0.0007 | rs190521996 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.3 | M | -4.94 | D | -5.65 | D | 0.987 | 6.469 | 29.9 | 0.999 | 0.967 | D | 1.092 | D | 0.970 | D | 0.707 | 0 | 5.22 | 0.991 | 1.007 | 0.998 | 0.995 | 14.292 | Deleterious |
| 1472 | 16 | 8811674 | C | T | Pathogenic/Likely pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8811674 | 8811674 | C | T | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon6:c.C484T:p.R162W | 16p13.2 | . | rs104894526 | 0.0 | D | 0.011 | B | 0.017 | B | 0.027 | N | 0.999 | A | 2.265 | M | -5.1 | D | -5.09 | D | 0.86 | 7.368 | 34 | 0.980 | 0.855 | D | 0.990 | D | 0.921 | D | 0.707 | 0 | 3.14 | -0.040 | 0.888 | 0.957 | 0.990 | 13.664 | Deleterious |
| 1473 | 16 | 8847794 | C | T | Pathogenic/Likely pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8847794 | 8847794 | C | T | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon8:c.C710T:p.T237M | 16p13.2 | . | rs80338708 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.605 | H | -5.13 | D | -5.59 | D | 0.958 | 6.190 | 28.6 | 0.999 | 0.964 | D | 1.067 | D | 0.979 | D | 0.707 | 0 | 5.22 | 0.871 | 0.852 | 0.380 | 0.210 | 18.137 | Deleterious |
| 1474 | 16 | 8847794 | C | G | Pathogenic | PMM2 | . | . | . | . | . | . | . | . | . | . | 16 | 8847794 | 8847794 | C | G | exonic | PMM2 | . | nonsynonymous SNV | PMM2:NM_000303:exon8:c.C710G:p.T237R | 16p13.2 | 7.7e-05 | rs80338708 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.605 | H | -5.15 | D | -5.47 | D | 0.969 | 5.864 | 27.3 | 0.993 | 0.970 | D | 1.067 | D | 0.979 | D | 0.707 | 0 | 5.22 | 0.871 | 0.852 | 0.380 | 0.210 | 18.137 | Deleterious |
| 1475 | 16 | 11553576 | G | A | Pathogenic | LITAF | . | . | . | . | . | . | . | . | . | . | 16 | 11553576 | 11553576 | G | A | exonic | LITAF | . | nonsynonymous SNV | LITAF:NM_001136472:exon3:c.G334T:p.G112C,LITAF:NM_001136473:exon3:c.G334T:p.G112C,LITAF:NM_004862:exon3:c.G334T:p.G112C | 16p13.13 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.66 | H | -3.39 | D | -8.93 | D | 0.992 | 6.429 | 29.7 | 0.997 | 0.892 | D | 1.077 | D | 0.926 | D | 0.732 | 0 | 5.39 | 0.871 | 0.935 | 0.937 | 0.501 | 16.665 | Deleterious |
| 1476 | 16 | 15726915 | T | C | Pathogenic | MYH11 | . | . | . | . | . | . | . | . | . | . | 16 | 15726915 | 15726915 | T | C | exonic | MYH11 | . | nonsynonymous SNV | MYH11:NM_002474:exon28:c.T3791G:p.L1264R,MYH11:NM_022844:exon28:c.T3791G:p.L1264R,MYH11:NM_001040113:exon29:c.T3812G:p.L1271R,MYH11:NM_001040114:exon29:c.T3812G:p.L1271R | 16p13.11 | . | . | 0.044 | D | 0.958 | D | 0.936 | D | 0.000 | D | 1 | D | 2.8 | M | -2.0 | D | -4.0 | D | 0.95 | 5.043 | 25.2 | 0.998 | 0.981 | D | 0.666 | D | 0.751 | D | 0.615 | 0 | 4.68 | 1.062 | 1.194 | 0.999 | 1.000 | 13.628 | Deleterious |
| 1477 | 16 | 16163009 | C | T | Pathogenic | ABCC6 | . | . | . | . | . | . | . | . | . | . | 16 | 16163009 | 16163009 | C | T | exonic | ABCC6 | . | synonymous SNV | ABCC6:NM_001171:exon24:c.C3490A:p.R1164R | 16p13.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1478 | 16 | 16163078 | C | T | Pathogenic | ABCC6 | . | . | . | . | . | . | . | . | . | . | 16 | 16163078 | 16163078 | C | T | exonic | ABCC6 | . | synonymous SNV | ABCC6:NM_001171:exon24:c.C3421A:p.R1141R | 16p13.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1479 | 16 | 23603471 | C | A | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23603471 | 23603471 | C | A | exonic | PALB2 | . | synonymous SNV | PALB2:NM_024675:exon13:c.C3549T:p.Y1183Y | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1480 | 16 | 23603471 | C | G | Pathogenic/Likely pathogenic, not provided, risk factor | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23603471 | 23603471 | C | G | exonic | PALB2 | . | synonymous SNV | PALB2:NM_024675:exon13:c.C3549C:p.Y1183Y | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1481 | 16 | 23607958 | C | T | Pathogenic/Likely pathogenic, risk factor | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23607958 | 23607958 | C | T | exonic | PALB2 | . | synonymous SNV | PALB2:NM_024675:exon12:c.C3256A:p.R1086R | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1482 | 16 | 23614003 | G | C | Pathogenic/Likely pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23614003 | 23614003 | G | C | splicing | PALB2 | NM_024675:exon11:c.3201+1C>G | . | . | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1483 | 16 | 23622979 | G | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23622979 | 23622979 | G | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon9:c.G2986A:p.E996K | 16p12.2 | . | . | 0.01 | D | 0.98 | D | 0.814 | P | 0.001 | D | 0.981 | N | 2.095 | M | 1.64 | T | -2.87 | D | 0.565 | 6.650 | 32 | 0.999 | 0.757 | D | -0.925 | T | 0.144 | T | 0.707 | 0 | 4.88 | 0.871 | 0.816 | 0.994 | 0.994 | 12.922 | Tolerated |
| 1484 | 16 | 23629645 | G | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23629645 | 23629645 | G | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon5:c.G2509A:p.E837K | 16p12.2 | . | rs587778587 | 0.146 | T | 0.922 | P | 0.186 | B | 0.001 | D | 0.671 | N | 1.78 | L | 2.39 | T | -1.91 | N | 0.165 | 2.118 | 16.97 | 0.902 | 0.319 | N | -1.034 | T | 0.031 | T | 0.707 | 0 | 2.43 | 0.598 | 0.060 | 0.468 | 0.324 | 7.220 | Tolerated |
| 1485 | 16 | 23629768 | G | T | Pathogenic/Likely pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23629768 | 23629768 | G | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon5:c.G2386A:p.G796R | 16p12.2 | . | . | 0.006 | D | 0.617 | P | 0.221 | B | 0.552 | N | 1 | N | 2.19 | M | 2.36 | T | -3.72 | D | 0.208 | 2.565 | 19.89 | 0.988 | 0.342 | N | -1.061 | T | 0.049 | T | 0.707 | 0 | 3.08 | 0.871 | -0.348 | 0.158 | 0.031 | 8.426 | Tolerated |
| 1486 | 16 | 23629831 | C | T | Pathogenic, risk factor | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23629831 | 23629831 | C | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon5:c.C2323A:p.Q775K | 16p12.2 | . | . | 0.087 | T | 0.775 | P | 0.306 | B | 0.190 | N | 1 | N | 1.95 | M | 2.46 | T | -1.93 | N | 0.136 | 0.914 | 10.16 | 0.927 | 0.390 | N | -1.047 | T | 0.048 | T | 0.707 | 0 | 5.12 | 0.917 | 0.998 | 0.039 | 0.056 | 11.689 | Tolerated |
| 1487 | 16 | 23629897 | C | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23629897 | 23629897 | C | T | exonic | PALB2 | . | synonymous SNV | PALB2:NM_024675:exon5:c.C2257A:p.R753R | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1488 | 16 | 23634893 | T | A | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23634893 | 23634893 | T | A | exonic | PALB2 | . | synonymous SNV | PALB2:NM_024675:exon4:c.T1653T:p.Y551Y | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1489 | 16 | 23634913 | G | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23634913 | 23634913 | G | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon4:c.G1633A:p.E545K | 16p12.2 | . | . | 0.377 | T | 0.077 | B | 0.025 | B | 0.125 | N | 1 | N | 0.895 | L | 2.62 | T | -0.8 | N | 0.242 | 0.395 | 6.572 | 0.976 | 0.027 | N | -1.005 | T | 0.022 | T | 0.707 | 0 | 2.72 | 0.008 | 0.077 | 0.003 | 0.002 | 5.726 | Tolerated |
| 1490 | 16 | 23635306 | C | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23635306 | 23635306 | C | T | exonic | PALB2 | . | synonymous SNV | PALB2:NM_024675:exon4:c.C1240A:p.R414R | 16p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1491 | 16 | 23635795 | C | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23635795 | 23635795 | C | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon4:c.C751A:p.Q251K | 16p12.2 | . | . | 0.283 | T | 0.07 | B | 0.033 | B | 0.510 | N | 1 | N | 1.1 | L | 2.53 | T | -0.63 | N | 0.156 | -0.221 | 0.992 | 0.709 | 0.293 | N | -0.974 | T | 0.030 | T | 0.707 | 0 | 1.69 | 0.045 | -0.098 | 0.013 | 0.000 | 7.525 | Tolerated |
| 1492 | 16 | 23637865 | C | T | Pathogenic/Likely pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23637865 | 23637865 | C | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon3:c.C196A:p.Q66K | 16p12.2 | . | rs180177083 | 0.05 | D | 0.705 | P | 0.359 | B | 0.012 | N | 1 | N | 2.075 | M | 1.63 | T | -1.99 | N | 0.28 | 2.929 | 22.0 | 0.898 | 0.244 | N | -1.023 | T | 0.089 | T | 0.651 | 0 | 4.69 | 0.917 | 1.047 | 0.343 | 0.214 | 10.31 | Tolerated |
| 1493 | 16 | 23638099 | G | T | Pathogenic | PALB2 | . | . | . | . | . | . | . | . | . | . | 16 | 23638099 | 23638099 | G | T | exonic | PALB2 | . | nonsynonymous SNV | PALB2:NM_024675:exon2:c.G79A:p.E27K | 16p12.2 | . | . | 0.0 | D | 0.999 | D | 0.961 | D | 0.000 | D | 0.907 | D | 2.19 | M | 1.19 | T | -2.72 | D | 0.712 | 6.948 | 33 | 0.999 | 0.885 | D | -0.572 | T | 0.222 | T | 0.672 | 0 | 5.5 | 0.871 | 0.934 | 0.998 | 0.993 | 16.885 | Tolerated |
| 1494 | 16 | 30737343 | C | T | Pathogenic | SRCAP | . | . | . | . | . | . | . | . | . | . | 16 | 30737343 | 30737343 | C | T | exonic | SRCAP | . | stopgain | SRCAP:NM_006662:exon34:c.C7303T:p.R2435X | 16p11.2 | . | rs199469465 | . | . | . | . | . | . | 0.080 | N | 1 | A | . | . | . | . | . | . | . | 9.065 | 35 | 0.972 | 0.280 | N | . | . | . | . | 0.707 | 0 | -0.841 | -1.691 | -0.929 | 0.194 | 0.892 | 7.133 | Deleterious (DANN) |
| 1495 | 16 | 30737370 | C | T | Pathogenic | SRCAP | . | . | . | . | . | . | . | . | . | . | 16 | 30737370 | 30737370 | C | T | exonic | SRCAP | . | stopgain | SRCAP:NM_006662:exon34:c.C7330T:p.R2444X | 16p11.2 | . | rs199469464 | . | . | . | . | . | . | 0.742 | N | 1 | A | . | . | . | . | . | . | . | 14.170 | 45 | 0.997 | 0.964 | D | . | . | . | . | 0.707 | 0 | 4.18 | 0.871 | 0.807 | 0.007 | 0.999 | 14.095 | Deleterious (FATHMM) |
| 1496 | 16 | 53652844 | A | C | Pathogenic | RPGRIP1L | . | . | . | . | . | . | . | . | . | . | 16 | 53652844 | 53652844 | A | C | exonic | RPGRIP1L | . | nonsynonymous SNV | RPGRIP1L:NM_001127897:exon15:c.A1843G:p.T615A,RPGRIP1L:NM_001308334:exon15:c.A1843G:p.T615A,RPGRIP1L:NM_015272:exon15:c.A1843G:p.T615A | 16q12.2 | . | . | 0.57 | T | 0.0 | B | 0.001 | B | 0.151 | N | 0.987 | N | -0.41 | N | -2.33 | D | -0.98 | N | 0.136 | 0.765 | 9.247 | 0.887 | 0.756 | D | -0.841 | T | 0.299 | T | 0.638 | 0 | 3.15 | 0.042 | 0.081 | 0.981 | 0.992 | 8.258 | Tolerated |
| 1497 | 16 | 56336763 | G | A | Pathogenic | GNAO1 | . | . | . | . | . | . | . | . | . | . | 16 | 56336763 | 56336763 | G | A | exonic | GNAO1 | . | nonsynonymous SNV | GNAO1:NM_020988:exon6:c.G626A:p.R209H,GNAO1:NM_138736:exon6:c.G626A:p.R209H | 16q13 | . | rs797044878 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.995 | H | -3.14 | D | -4.72 | D | 0.938 | 7.668 | 35 | 1.000 | 0.963 | D | 1.087 | D | 0.926 | D | 0.696 | 0 | 5.29 | 0.917 | 1.048 | 0.998 | 1.000 | 18.958 | Deleterious |
| 1498 | 16 | 56351396 | G | A | Pathogenic | GNAO1 | . | . | . | . | . | . | . | . | . | . | 16 | 56351396 | 56351396 | G | A | exonic | GNAO1 | . | nonsynonymous SNV | GNAO1:NM_020988:exon7:c.G736A:p.E246K | 16q13 | . | rs797044951 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.28 | H | -2.69 | D | -3.8 | D | 0.963 | 3.185 | 22.7 | 0.999 | 0.990 | D | 1.058 | D | 0.922 | D | 0.646 | 0 | 5.91 | 0.917 | 1.048 | 1.000 | 1.000 | 20.295 | Deleterious |
| 1499 | 16 | 56502790 | C | T | Pathogenic | BBS2 | . | . | . | . | . | . | . | . | . | . | 16 | 56502790 | 56502790 | C | T | exonic | BBS2 | . | synonymous SNV | BBS2:NM_031885:exon8:c.C823A:p.R275R | 16q13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1500 | 16 | 57659534 | C | T | Pathogenic | ADGRG1 | . | . | . | . | . | . | . | . | . | . | 16 | 57659534 | 57659534 | C | T | exonic | ADGRG1 | . | stopgain | ADGRG1:NM_001145773:exon11:c.C1423T:p.R475X,ADGRG1:NM_001290142:exon11:c.C916T:p.R306X,ADGRG1:NM_001290143:exon11:c.C901T:p.R301X,ADGRG1:NM_001290144:exon11:c.C883T:p.R295X,ADGRG1:NM_201525:exon11:c.C1408T:p.R470X,ADGRG1:NM_001145770:exon12:c.C1408T:p.R470X,ADGRG1:NM_001145771:exon12:c.C1426T:p.R476X,ADGRG1:NM_001145772:exon12:c.C1408T:p.R470X,ADGRG1:NM_001145774:exon12:c.C1408T:p.R470X,ADGRG1:NM_005682:exon12:c.C1426T:p.R476X,ADGRG1:NM_201524:exon12:c.C1408T:p.R470X | 16q21 | . | rs587783652 | . | . | . | . | . | . | 0.339 | N | 1 | A | . | . | . | . | . | . | . | 8.535 | 35 | 0.981 | 0.104 | N | . | . | . | . | 0.707 | 0 | -0.729 | 0.871 | 0.892 | 0.646 | 0.044 | 3.838 | Deleterious (DANN) |
| 1501 | 16 | 68811854 | C | T | Pathogenic | CDH1 | . | . | . | . | . | . | . | . | . | . | 16 | 68811854 | 68811854 | C | T | exonic | CDH1 | . | stopgain | CDH1:NM_001317184:exon7:c.C1003T:p.R335X,CDH1:NM_004360:exon7:c.C1003T:p.R335X | 16q22.1 | . | rs587780784 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.065 | 38 | 0.998 | 0.844 | D | . | . | . | . | 0.632 | 0 | 3.22 | -0.058 | 0.935 | 0.998 | 1.000 | 13.393 | Deleterious (FATHMM) |
| 1502 | 16 | 68812264 | G | A | Pathogenic | CDH1 | . | . | . | . | . | . | . | . | . | . | 16 | 68812264 | 68812264 | G | A | splicing | CDH1 | NM_001317184:exon8:c.1137+1G>A,NM_004360:exon8:c.1137+1G>A | . | . | 16q22.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.444 | 24.2 | 0.990 | 0.990 | D | . | . | . | . | 0.162 | 0 | 5.72 | 0.917 | 1.048 | 0.995 | 0.268 | 19.481 | Deleterious (FATHMM) |
| 1503 | 16 | 68815760 | G | A | Pathogenic | CDH1 | . | . | . | . | . | . | . | . | . | . | 16 | 68815760 | 68815760 | G | A | splicing | CDH1 | NM_001317184:exon9:c.1382+1G>A,NM_001317185:exon10:c.17+1G>A,NM_004360:exon10:c.1565+1G>A | . | . | 16q22.1 | . | rs587780113 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.771 | 27.0 | 0.995 | 0.996 | D | . | . | . | . | 0.295 | 0 | 5.72 | 0.917 | 1.045 | 0.928 | 0.960 | 18.450 | Deleterious (FATHMM) |
| 1504 | 16 | 68828296 | G | T | Pathogenic | CDH1 | . | . | . | . | . | . | . | . | . | . | 16 | 68828296 | 68828296 | G | T | exonic | CDH1 | . | stopgain | CDH1:NM_001317184:exon13:c.G2104T:p.E702X,CDH1:NM_001317186:exon13:c.G322T:p.E108X,CDH1:NM_001317185:exon14:c.G739T:p.E247X,CDH1:NM_004360:exon14:c.G2287T:p.E763X | 16q22.1 | . | rs587780787 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.666 | 52 | 0.997 | 0.988 | D | . | . | . | . | 0.672 | 0 | 5.35 | 0.917 | 0.953 | 0.994 | 0.990 | 19.030 | Deleterious (FATHMM) |
| 1505 | 16 | 70268356 | G | A | Pathogenic | AARS | . | . | . | . | . | . | . | . | . | . | 16 | 70268356 | 70268356 | G | A | exonic | AARS | . | nonsynonymous SNV | AARS:NM_001605:exon8:c.G986T:p.R329L | 16q22.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.65 | H | -3.23 | D | -6.9 | D | 0.978 | 8.071 | 35 | 0.999 | 0.993 | D | 1.098 | D | 0.948 | D | 0.719 | 0 | 5.66 | 0.871 | 0.935 | 0.998 | 0.995 | 17.294 | Deleterious |
| 1506 | 16 | 72014641 | C | T | Pathogenic/Likely pathogenic | DHODH | . | . | . | . | . | . | . | . | . | . | 16 | 72014641 | 72014641 | C | T | exonic | DHODH | . | nonsynonymous SNV | DHODH:NM_001361:exon3:c.C403T:p.R135C | 16q22.2 | 0.0004 | rs201230446 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.255 | H | -2.21 | D | -7.6 | D | 0.985 | 7.553 | 34 | 0.973 | 0.917 | D | 1.044 | D | 0.883 | D | 0.707 | 0 | 5.29 | 0.871 | 0.852 | 0.947 | 0.984 | 17.908 | Deleterious |
| 1507 | 16 | 81357003 | G | A | Pathogenic | GAN | . | . | . | . | . | . | . | . | . | . | 16 | 81357003 | 81357003 | G | A | splicing | GAN | NM_022041:exon4:c.851+1G>A | . | . | 16q23.2 | . | rs747291494 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.299 | 24.0 | 0.993 | 0.998 | D | . | . | . | . | 0.099 | 0 | 5.82 | 0.917 | 1.048 | 0.983 | 0.636 | 20.101 | Deleterious (FATHMM) |
| 1508 | 16 | 88824853 | C | T | Pathogenic | GALNS | . | . | . | . | . | . | . | . | . | . | 16 | 88824853 | 88824853 | C | T | exonic | GALNS | . | nonsynonymous SNV | GALNS:NM_000512:exon11:c.C1156A:p.R386S | 16q24.3 | . | . | 0.012 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 1.295 | L | -2.5 | D | -4.22 | D | 0.912 | 6.217 | 28.8 | 0.996 | 0.932 | D | 0.385 | D | 0.732 | D | 0.713 | 0 | 4.68 | 0.917 | 0.953 | 0.873 | 0.495 | 17.591 | Deleterious |
| 1509 | 16 | 88840993 | T | A | Pathogenic/Likely pathogenic | GALNS | . | . | . | . | . | . | . | . | . | . | 16 | 88840993 | 88840993 | T | A | exonic | GALNS | . | synonymous SNV | GALNS:NM_000512:exon4:c.T421T:p.W141W | 16q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1510 | 16 | 88841077 | A | T | Pathogenic | GALNS | . | . | . | . | . | . | . | . | . | . | 16 | 88841077 | 88841077 | A | T | exonic | GALNS | . | synonymous SNV | GALNS:NM_000512:exon4:c.A337A:p.I113I | 16q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1511 | 16 | 89154148 | C | T | Pathogenic | ACSF3 | . | . | . | . | . | . | . | . | . | . | 16 | 89154148 | 89154148 | C | T | exonic | ACSF3 | . | nonsynonymous SNV | ACSF3:NM_001284316:exon9:c.C877T:p.R293W,ACSF3:NM_001127214:exon10:c.C1672T:p.R558W,ACSF3:NM_001243279:exon11:c.C1672T:p.R558W,ACSF3:NM_174917:exon11:c.C1672T:p.R558W | 16q24.3 | 0.0035 | rs141090143 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 0.993 | D | 3.87 | H | 0.22 | T | -5.76 | D | 0.848 | 5.987 | 27.8 | 0.998 | 0.382 | N | -0.032 | T | 0.400 | T | 0.635 | 0 | 1.37 | 0.868 | -0.058 | 0.991 | 0.880 | 11.304 | Tolerated |
| 1512 | 16 | 89275092 | G | A | Pathogenic | ANKRD11 | . | . | . | . | . | . | . | . | . | . | 16 | 89275092 | 89275092 | G | A | splicing | ANKRD11 | NM_013275:exon10:c.7569+1C>T,NM_001256183:exon10:c.7569+1C>T,NM_001256182:exon11:c.7569+1C>T | . | . | 16q24.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.024 | 27.9 | 0.995 | 0.984 | D | . | . | . | . | 0.099 | 0 | 5.16 | 0.871 | 0.935 | 0.988 | 0.918 | 18.611 | Deleterious (FATHMM) |
| 1513 | 16 | 89510539 | T | A | Pathogenic | SPG7 | . | . | . | . | . | . | . | . | . | . | 16 | 89510539 | 89510539 | T | A | exonic | SPG7 | . | stopgain | SPG7:NM_003119:exon2:c.T233A:p.L78X,SPG7:NM_199367:exon2:c.T233A:p.L78X | 16q24.3 | 7.7e-05 | rs121918358 | . | . | . | . | . | . | 0.894 | N | 1 | A | . | . | . | . | . | . | . | 4.296 | 24.0 | 0.905 | 0.128 | N | . | . | . | . | 0.707 | 0 | 0.04 | 0.991 | 1.058 | 0.988 | 0.417 | 6.847 | |
| 1514 | 16 | 89531903 | G | A | Pathogenic/Likely pathogenic | SPG7 | . | . | . | . | . | . | . | . | . | . | 16 | 89531903 | 89531903 | G | A | splicing | SPG7 | NM_003119:exon8:c.988-1G>A,NM_199367:exon8:c.988-1G>A | . | . | 16q24.3 | . | rs748309520 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.640 | 24.5 | 0.993 | 0.992 | D | . | . | . | . | 0.257 | 0 | 5.85 | 0.917 | 1.048 | 0.866 | 0.640 | 20.236 | Deleterious (FATHMM) |
| 1515 | 16 | 89531961 | G | A | Pathogenic | SPG7 | . | . | . | . | . | . | . | . | . | . | 16 | 89531961 | 89531961 | G | A | exonic | SPG7 | . | nonsynonymous SNV | SPG7:NM_003119:exon8:c.G1045A:p.G349S,SPG7:NM_199367:exon8:c.G1045A:p.G349S | 16q24.3 | 0.0012 | rs141659620 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.195 | H | -8.02 | D | -5.49 | D | 0.989 | 6.590 | 31 | 0.998 | 0.978 | D | 0.925 | D | 0.998 | D | 0.722 | 0 | 5.85 | 0.917 | 1.048 | 0.375 | 0.114 | 20.236 | Deleterious |
| 1516 | 16 | 89546737 | C | T | Pathogenic/Likely pathogenic | SPG7 | . | . | . | . | . | . | . | . | . | . | 16 | 89546737 | 89546737 | C | T | exonic | SPG7 | . | nonsynonymous SNV | SPG7:NM_003119:exon11:c.C1529T:p.A510V | 16q24.3 | 0.0035 | rs61755320 | 0.001 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 2.575 | M | -3.83 | D | -3.88 | D | 0.976 | 6.631 | 32 | 0.999 | 0.968 | D | 1.057 | D | 0.927 | D | 0.707 | 0 | 5.42 | 0.871 | 0.935 | 0.996 | 0.997 | 19.218 | Deleterious |
| 1517 | 16 | 89651586 | C | T | Pathogenic | CHMP1A | . | . | . | . | . | . | . | . | . | . | 16 | 89651586 | 89651586 | C | T | exonic | CHMP1A | . | nonsynonymous SNV | CHMP1A:NM_001083314:exon2:c.C68A:p.A23E,CHMP1A:NM_002768:exon3:c.C88A:p.Q30K | 16q24.3 | . | . | 1.0 | T | 0.001 | B | 0.004 | B | . | . | 1 | D | -1.585 | N | -0.48 | T | 1.1 | N | 0.716 | 1.595 | 13.82 | 0.623 | 0.994 | D | -0.856 | T | 0.091 | T | 0.707 | 0 | 4.81 | 0.917 | 0.953 | 0.999 | 0.988 | 18.237 | Tolerated |
| 1518 | 16 | 89746890 | A | G | Pathogenic | FANCA | . | . | . | . | . | . | . | . | . | . | 16 | 89746890 | 89746890 | A | G | exonic | FANCA | . | synonymous SNV | FANCA:NM_000135:exon34:c.A3349C:p.R1117R,FANCA:NM_001286167:exon34:c.A3349C:p.R1117R | 16q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1519 | 17 | 2670193 | C | T | Pathogenic | PAFAH1B1 | . | . | . | . | . | . | . | . | . | . | 17 | 2670193 | 2670193 | C | T | exonic | PAFAH1B1 | . | stopgain | PAFAH1B1:NM_000430:exon6:c.C430T:p.R144X | 17p13.3 | . | rs587784267 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.904 | 38 | 0.998 | 0.969 | D | . | . | . | . | 0.707 | 0 | 4.91 | 0.871 | 0.848 | 0.998 | 1.000 | 14.567 | Deleterious (FATHMM) |
| 1520 | 17 | 2674205 | C | T | Pathogenic | PAFAH1B1 | . | . | . | . | . | . | . | . | . | . | 17 | 2674205 | 2674205 | C | T | exonic | PAFAH1B1 | . | stopgain | PAFAH1B1:NM_000430:exon8:c.C817T:p.R273X | 17p13.3 | . | rs121434483 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.887 | 43 | 0.998 | 0.962 | D | . | . | . | . | 0.707 | 0 | 5.74 | 0.871 | 0.852 | 1.000 | 1.000 | 13.839 | Deleterious (FATHMM) |
| 1521 | 17 | 3494408 | C | A | Pathogenic | ASPA|SPATA22 | . | . | . | . | . | . | . | . | . | . | 17 | 3494408 | 3494408 | C | A | exonic | ASPA | . | stopgain | ASPA:NM_000049:exon5:c.C693A:p.Y231X,ASPA:NM_001128085:exon6:c.C693A:p.Y231X | 17p13.2 | . | rs12948217 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 10.398 | 36 | 0.997 | 0.810 | D | . | . | . | . | 0.487 | 0 | 3.51 | -0.328 | -0.215 | 0.660 | 0.994 | 8.284 | Deleterious (FATHMM) |
| 1522 | 17 | 3499000 | A | C | Pathogenic | ASPA|SPATA22 | . | . | . | . | . | . | . | . | . | . | 17 | 3499000 | 3499000 | A | C | exonic | ASPA | . | nonsynonymous SNV | ASPA:NM_000049:exon6:c.A854C:p.E285A,ASPA:NM_001128085:exon7:c.A854C:p.E285A | 17p13.2 | 0.0002 | rs28940279 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.18 | M | -4.66 | D | -5.64 | D | 0.94 | 4.724 | 24.6 | 0.995 | 0.984 | D | 1.143 | D | 0.959 | D | 0.554 | 0 | 4.68 | 1.062 | 1.140 | 0.992 | 0.681 | 11.195 | Deleterious |
| 1523 | 17 | 6425781 | G | A | Pathogenic | AIPL1 | . | . | . | . | . | . | . | . | . | . | 17 | 6425781 | 6425781 | G | A | exonic | AIPL1 | . | nonsynonymous SNV | AIPL1:NM_001033054:exon5:c.G645T:p.W215C,AIPL1:NM_001033055:exon5:c.G654T:p.W218C,AIPL1:NM_001285399:exon6:c.G798T:p.W266C,AIPL1:NM_001285400:exon6:c.G768T:p.W256C,AIPL1:NM_001285401:exon6:c.G762T:p.W254C,AIPL1:NM_001285402:exon6:c.G717T:p.W239C,AIPL1:NM_014336:exon6:c.G834T:p.W278C | 17p13.2 | . | . | 0.015 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.075 | M | 0.26 | T | -11.64 | D | 0.758 | 6.236 | 28.8 | 0.990 | 0.988 | D | 0.607 | D | 0.760 | D | 0.428 | 0 | 5.14 | 0.871 | 0.935 | 0.990 | 0.952 | 16.071 | Deleterious |
| 1524 | 17 | 7221966 | G | A | Pathogenic/Likely pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7221966 | 7221966 | G | A | exonic | ACADVL | . | nonsynonymous SNV | ACADVL:NM_001033859:exon7:c.G571A:p.A191T,ACADVL:NM_001270448:exon7:c.G409A:p.A137T,ACADVL:NM_000018:exon8:c.G637A:p.A213T,ACADVL:NM_001270447:exon9:c.G706A:p.A236T | 17p13.1 | . | rs140629318 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.95 | M | -4.0 | D | -3.79 | D | 0.933 | 6.572 | 31 | 0.999 | 0.972 | D | 1.088 | D | 0.947 | D | 0.672 | 0 | 5.73 | 0.917 | 1.048 | 0.753 | 0.911 | 17.386 | Deleterious |
| 1525 | 17 | 7222272 | T | C | Pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7222272 | 7222272 | T | C | exonic | ACADVL | . | nonsynonymous SNV | ACADVL:NM_001033859:exon8:c.T782C:p.V261A,ACADVL:NM_001270448:exon8:c.T620C:p.V207A,ACADVL:NM_000018:exon9:c.T848C:p.V283A,ACADVL:NM_001270447:exon10:c.T917C:p.V306A | 17p13.1 | 0.0009 | rs113994167 | 0.0 | D | 0.605 | P | 0.47 | P | 0.000 | D | 1.000 | A | 0.95 | L | -5.34 | D | -3.98 | D | 0.889 | 5.413 | 26.0 | 0.998 | 0.951 | D | 1.204 | D | 0.921 | D | 0.672 | 0 | 5.22 | 0.991 | 1.061 | 0.999 | 1.000 | 13.069 | Deleterious |
| 1526 | 17 | 7223151 | C | T | Pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7223151 | 7223151 | C | T | exonic | ACADVL | . | nonsynonymous SNV | ACADVL:NM_001033859:exon10:c.C1030T:p.R344C,ACADVL:NM_001270448:exon10:c.C868T:p.R290C,ACADVL:NM_000018:exon11:c.C1096T:p.R366C,ACADVL:NM_001270447:exon12:c.C1165T:p.R389C | 17p13.1 | . | rs771874163 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.88 | H | -5.06 | D | -7.73 | D | 0.988 | 7.472 | 34 | 0.999 | 0.880 | D | 0.994 | D | 0.987 | D | 0.672 | 0 | 5.62 | 0.871 | 0.932 | 0.997 | 1.000 | 17.142 | Deleterious |
| 1527 | 17 | 7223865 | G | A | Pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7223865 | 7223865 | G | A | exonic | ACADVL | . | nonsynonymous SNV | ACADVL:NM_001033859:exon12:c.G1256A:p.G419D,ACADVL:NM_001270448:exon12:c.G1094A:p.G365D,ACADVL:NM_000018:exon13:c.G1322A:p.G441D,ACADVL:NM_001270447:exon14:c.G1391A:p.G464D | 17p13.1 | . | rs2309689 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | A | 4.53 | H | -5.53 | D | -6.53 | D | 0.997 | 6.314 | 29.2 | 0.949 | 0.967 | D | 1.004 | D | 0.987 | D | 0.672 | 0 | 5.77 | 0.917 | 1.048 | 1.000 | 1.000 | 17.535 | Deleterious |
| 1528 | 17 | 7224041 | G | A | Pathogenic/Likely pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7224041 | 7224041 | G | A | exonic | ACADVL | . | nonsynonymous SNV | ACADVL:NM_001033859:exon13:c.G1340A:p.R447Q,ACADVL:NM_001270448:exon13:c.G1178A:p.R393Q,ACADVL:NM_000018:exon14:c.G1406A:p.R469Q,ACADVL:NM_001270447:exon15:c.G1475A:p.R492Q | 17p13.1 | . | rs398123083 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.835 | M | -4.17 | D | -3.83 | D | 0.986 | 7.353 | 34 | 0.995 | 0.984 | D | 1.076 | D | 0.942 | D | 0.672 | 0 | 5.74 | 0.917 | 1.048 | 0.987 | 0.994 | 15.412 | Deleterious |
| 1529 | 17 | 7224636 | G | A | Pathogenic/Likely pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7224636 | 7224636 | G | A | intronic | ACADVL | . | . | . | 17p13.1 | 7.8e-05 | rs113994171 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1530 | 17 | 7224966 | C | T | Pathogenic/Likely pathogenic | ACADVL | . | . | . | . | . | . | . | . | . | . | 17 | 7224966 | 7224966 | C | T | exonic | ACADVL | . | nonsynonymous SNV | ACADVL:NM_001033859:exon19:c.C1771T:p.R591W,ACADVL:NM_001270448:exon19:c.C1609T:p.R537W,ACADVL:NM_000018:exon20:c.C1837T:p.R613W,ACADVL:NM_001270447:exon21:c.C1906T:p.R636W | 17p13.1 | . | rs118204014 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 2.99 | M | -1.39 | T | -7.39 | D | 0.947 | 7.594 | 34 | 0.974 | 0.826 | D | 0.603 | D | 0.729 | D | 0.672 | 0 | 5.74 | 0.871 | 0.935 | 0.826 | 0.989 | 17.412 | Deleterious |
| 1531 | 17 | 7669692 | A | G | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7669692 | 7669692 | A | G | splicing | TP53 | NM_000546:exon11:c.1101-2T>C,NM_001126112:exon11:c.1101-2T>C,NM_001126114:exon12:c.1234-2T>C,NM_001276697:exon7:c.624-2T>C,NM_001276696:exon12:c.1117-2T>C,NM_001276695:exon12:c.1044-2T>C,NM_001276761:exon11:c.984-2T>C,NM_001276760:exon11:c.984-2T>C,NM_001276699:exon8:c.684-2T>C,NM_001276698:exon8:c.757-2T>C,NM_001126118:exon10:c.984-2T>C,NM_001126117:exon8:c.765-2T>C,NM_001126116:exon8:c.838-2T>C,NM_001126115:exon7:c.705-2T>C,NM_001126113:exon12:c.1161-2T>C | . | . | 17p13.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.523 | 24.3 | 0.992 | 0.907 | D | . | . | . | . | 0.295 | 0 | 5.31 | 0.991 | 1.058 | 0.985 | 0.891 | 11.571 | Deleterious (FATHMM) |
| 1532 | 17 | 7670685 | C | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7670685 | 7670685 | C | T | exonic | TP53 | . | synonymous SNV | TP53:NM_001126115:exon6:c.C628A:p.R210R,TP53:NM_001276697:exon6:c.C547A:p.R183R,TP53:NM_001126118:exon9:c.C907A:p.R303R,TP53:NM_000546:exon10:c.C1024A:p.R342R,TP53:NM_001126112:exon10:c.C1024A:p.R342R,TP53:NM_001276760:exon10:c.C907A:p.R303R,TP53:NM_001276761:exon10:c.C907A:p.R303R | 17p13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1533 | 17 | 7670699 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7670699 | 7670699 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon6:c.G614T:p.R205L,TP53:NM_001276697:exon6:c.G533T:p.R178L,TP53:NM_001126118:exon9:c.G893T:p.R298L,TP53:NM_000546:exon10:c.G1010T:p.R337L,TP53:NM_001126112:exon10:c.G1010T:p.R337L,TP53:NM_001276760:exon10:c.G893T:p.R298L,TP53:NM_001276761:exon10:c.G893T:p.R298L | 17p13.1 | . | rs121912664 | 0.018 | D | 0.995 | D | 0.946 | D | 0.000 | D | 1 | D | 2.585 | M | -3.62 | D | -4.12 | D | 0.627 | 6.150 | 28.5 | 0.997 | 0.826 | D | 0.888 | D | 0.888 | D | 0.707 | 0 | 3.45 | 0.871 | 0.852 | 0.967 | 0.881 | 9.887 | Deleterious |
| 1534 | 17 | 7673704 | C | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7673704 | 7673704 | C | T | exonic | TP53 | . | synonymous SNV | TP53:NM_001126115:exon4:c.C520A:p.R174R,TP53:NM_001126116:exon4:c.C520A:p.R174R,TP53:NM_001126117:exon4:c.C520A:p.R174R,TP53:NM_001276697:exon4:c.C439A:p.R147R,TP53:NM_001276698:exon4:c.C439A:p.R147R,TP53:NM_001276699:exon4:c.C439A:p.R147R,TP53:NM_001126118:exon7:c.C799A:p.R267R,TP53:NM_000546:exon8:c.C916A:p.R306R,TP53:NM_001126112:exon8:c.C916A:p.R306R,TP53:NM_001126113:exon8:c.C916A:p.R306R,TP53:NM_001126114:exon8:c.C916A:p.R306R,TP53:NM_001276695:exon8:c.C799A:p.R267R,TP53:NM_001276696:exon8:c.C799A:p.R267R,TP53:NM_001276760:exon8:c.C799A:p.R267R,TP53:NM_001276761:exon8:c.C799A:p.R267R | 17p13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1535 | 17 | 7673728 | G | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7673728 | 7673728 | G | T | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon4:c.G496A:p.E166K,TP53:NM_001126116:exon4:c.G496A:p.E166K,TP53:NM_001126117:exon4:c.G496A:p.E166K,TP53:NM_001276697:exon4:c.G415A:p.E139K,TP53:NM_001276698:exon4:c.G415A:p.E139K,TP53:NM_001276699:exon4:c.G415A:p.E139K,TP53:NM_001126118:exon7:c.G775A:p.E259K,TP53:NM_000546:exon8:c.G892A:p.E298K,TP53:NM_001126112:exon8:c.G892A:p.E298K,TP53:NM_001126113:exon8:c.G892A:p.E298K,TP53:NM_001126114:exon8:c.G892A:p.E298K,TP53:NM_001276695:exon8:c.G775A:p.E259K,TP53:NM_001276696:exon8:c.G775A:p.E259K,TP53:NM_001276760:exon8:c.G775A:p.E259K,TP53:NM_001276761:exon8:c.G775A:p.E259K | 17p13.1 | . | rs201744589 | 0.19 | T | 0.007 | B | 0.008 | B | 0.149 | N | 1 | N | 2.655 | M | -5.42 | D | -0.13 | N | 0.211 | 0.759 | 9.210 | 0.935 | 0.130 | N | 0.980 | D | 0.953 | D | 0.722 | 0 | -4.03 | -0.675 | -0.324 | 0.001 | 0.000 | 5.949 | Deleterious |
| 1536 | 17 | 7673764 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7673764 | 7673764 | G | A | exonic | TP53 | . | stopgain | TP53:NM_001126115:exon4:c.G460T:p.E154X,TP53:NM_001126116:exon4:c.G460T:p.E154X,TP53:NM_001126117:exon4:c.G460T:p.E154X,TP53:NM_001276697:exon4:c.G379T:p.E127X,TP53:NM_001276698:exon4:c.G379T:p.E127X,TP53:NM_001276699:exon4:c.G379T:p.E127X,TP53:NM_001126118:exon7:c.G739T:p.E247X,TP53:NM_000546:exon8:c.G856T:p.E286X,TP53:NM_001126112:exon8:c.G856T:p.E286X,TP53:NM_001126113:exon8:c.G856T:p.E286X,TP53:NM_001126114:exon8:c.G856T:p.E286X,TP53:NM_001276695:exon8:c.G739T:p.E247X,TP53:NM_001276696:exon8:c.G739T:p.E247X,TP53:NM_001276760:exon8:c.G739T:p.E247X,TP53:NM_001276761:exon8:c.G739T:p.E247X | 17p13.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.557 | 37 | 0.997 | 0.996 | D | . | . | . | . | 0.722 | 0 | 4.99 | 0.871 | 0.932 | 0.991 | 0.995 | 15.807 | Deleterious (FATHMM) |
| 1537 | 17 | 7673778 | A | T | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7673778 | 7673778 | A | T | exonic | TP53 | . | synonymous SNV | TP53:NM_001126115:exon4:c.A446A:p.D149D,TP53:NM_001126116:exon4:c.A446A:p.D149D,TP53:NM_001126117:exon4:c.A446A:p.D149D,TP53:NM_001276697:exon4:c.A365A:p.D122D,TP53:NM_001276698:exon4:c.A365A:p.D122D,TP53:NM_001276699:exon4:c.A365A:p.D122D,TP53:NM_001126118:exon7:c.A725A:p.D242D,TP53:NM_000546:exon8:c.A842A:p.D281D,TP53:NM_001126112:exon8:c.A842A:p.D281D,TP53:NM_001126113:exon8:c.A842A:p.D281D,TP53:NM_001126114:exon8:c.A842A:p.D281D,TP53:NM_001276695:exon8:c.A725A:p.D242D,TP53:NM_001276696:exon8:c.A725A:p.D242D,TP53:NM_001276760:exon8:c.A725A:p.D242D,TP53:NM_001276761:exon8:c.A725A:p.D242D | 17p13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1538 | 17 | 7673796 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7673796 | 7673796 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon4:c.G428T:p.C143F,TP53:NM_001126116:exon4:c.G428T:p.C143F,TP53:NM_001126117:exon4:c.G428T:p.C143F,TP53:NM_001276697:exon4:c.G347T:p.C116F,TP53:NM_001276698:exon4:c.G347T:p.C116F,TP53:NM_001276699:exon4:c.G347T:p.C116F,TP53:NM_001126118:exon7:c.G707T:p.C236F,TP53:NM_000546:exon8:c.G824T:p.C275F,TP53:NM_001126112:exon8:c.G824T:p.C275F,TP53:NM_001126113:exon8:c.G824T:p.C275F,TP53:NM_001126114:exon8:c.G824T:p.C275F,TP53:NM_001276695:exon8:c.G707T:p.C236F,TP53:NM_001276696:exon8:c.G707T:p.C236F,TP53:NM_001276760:exon8:c.G707T:p.C236F,TP53:NM_001276761:exon8:c.G707T:p.C236F | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.34 | M | -7.39 | D | -9.51 | D | 0.995 | 7.423 | 34 | 0.994 | 0.997 | D | 0.923 | D | 0.994 | D | 0.722 | 0 | 4.92 | 0.871 | 0.932 | 0.998 | 0.997 | 15.662 | Deleterious |
| 1539 | 17 | 7673802 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7673802 | 7673802 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon4:c.G422T:p.R141L,TP53:NM_001126116:exon4:c.G422T:p.R141L,TP53:NM_001126117:exon4:c.G422T:p.R141L,TP53:NM_001276697:exon4:c.G341T:p.R114L,TP53:NM_001276698:exon4:c.G341T:p.R114L,TP53:NM_001276699:exon4:c.G341T:p.R114L,TP53:NM_001126118:exon7:c.G701T:p.R234L,TP53:NM_000546:exon8:c.G818T:p.R273L,TP53:NM_001126112:exon8:c.G818T:p.R273L,TP53:NM_001126113:exon8:c.G818T:p.R273L,TP53:NM_001126114:exon8:c.G818T:p.R273L,TP53:NM_001276695:exon8:c.G701T:p.R234L,TP53:NM_001276696:exon8:c.G701T:p.R234L,TP53:NM_001276760:exon8:c.G701T:p.R234L,TP53:NM_001276761:exon8:c.G701T:p.R234L | 17p13.1 | . | rs28934576 | 0.0 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1 | D | 3.145 | M | -7.3 | D | -6.04 | D | 0.997 | 7.449 | 34 | 0.998 | 0.996 | D | 0.928 | D | 0.994 | D | 0.722 | 0 | 4.92 | 0.871 | 0.932 | 0.975 | 0.792 | 15.662 | Deleterious |
| 1540 | 17 | 7674220 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674220 | 7674220 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon3:c.G347T:p.R116L,TP53:NM_001126116:exon3:c.G347T:p.R116L,TP53:NM_001126117:exon3:c.G347T:p.R116L,TP53:NM_001276697:exon3:c.G266T:p.R89L,TP53:NM_001276698:exon3:c.G266T:p.R89L,TP53:NM_001276699:exon3:c.G266T:p.R89L,TP53:NM_001126118:exon6:c.G626T:p.R209L,TP53:NM_000546:exon7:c.G743T:p.R248L,TP53:NM_001126112:exon7:c.G743T:p.R248L,TP53:NM_001126113:exon7:c.G743T:p.R248L,TP53:NM_001126114:exon7:c.G743T:p.R248L,TP53:NM_001276695:exon7:c.G626T:p.R209L,TP53:NM_001276696:exon7:c.G626T:p.R209L,TP53:NM_001276760:exon7:c.G626T:p.R209L,TP53:NM_001276761:exon7:c.G626T:p.R209L | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.315 | M | -7.3 | D | -6.11 | D | 0.936 | 7.456 | 34 | 0.998 | 0.987 | D | 0.968 | D | 0.994 | D | 0.722 | 0 | 3.65 | 0.033 | 0.848 | 0.928 | 0.944 | 10.669 | Deleterious |
| 1541 | 17 | 7674221 | C | T | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674221 | 7674221 | C | T | exonic | TP53 | . | synonymous SNV | TP53:NM_001126115:exon3:c.C346A:p.R116R,TP53:NM_001126116:exon3:c.C346A:p.R116R,TP53:NM_001126117:exon3:c.C346A:p.R116R,TP53:NM_001276697:exon3:c.C265A:p.R89R,TP53:NM_001276698:exon3:c.C265A:p.R89R,TP53:NM_001276699:exon3:c.C265A:p.R89R,TP53:NM_001126118:exon6:c.C625A:p.R209R,TP53:NM_000546:exon7:c.C742A:p.R248R,TP53:NM_001126112:exon7:c.C742A:p.R248R,TP53:NM_001126113:exon7:c.C742A:p.R248R,TP53:NM_001126114:exon7:c.C742A:p.R248R,TP53:NM_001276695:exon7:c.C625A:p.R209R,TP53:NM_001276696:exon7:c.C625A:p.R209R,TP53:NM_001276760:exon7:c.C625A:p.R209R,TP53:NM_001276761:exon7:c.C625A:p.R209R | 17p13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1542 | 17 | 7674227 | A | G | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674227 | 7674227 | A | G | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon3:c.A340C:p.M114L,TP53:NM_001126116:exon3:c.A340C:p.M114L,TP53:NM_001126117:exon3:c.A340C:p.M114L,TP53:NM_001276697:exon3:c.A259C:p.M87L,TP53:NM_001276698:exon3:c.A259C:p.M87L,TP53:NM_001276699:exon3:c.A259C:p.M87L,TP53:NM_001126118:exon6:c.A619C:p.M207L,TP53:NM_000546:exon7:c.A736C:p.M246L,TP53:NM_001126112:exon7:c.A736C:p.M246L,TP53:NM_001126113:exon7:c.A736C:p.M246L,TP53:NM_001126114:exon7:c.A736C:p.M246L,TP53:NM_001276695:exon7:c.A619C:p.M207L,TP53:NM_001276696:exon7:c.A619C:p.M207L,TP53:NM_001276760:exon7:c.A619C:p.M207L,TP53:NM_001276761:exon7:c.A619C:p.M207L | 17p13.1 | . | rs483352695 | 0.098 | T | 0.995 | D | 0.991 | D | 0.000 | D | 1.000 | D | 1.72 | L | -6.69 | D | -2.61 | D | 0.748 | 5.855 | 27.3 | 0.979 | 0.990 | D | 1.075 | D | 0.982 | D | 0.722 | 0 | 3.54 | 0.991 | 0.961 | 1.000 | 0.996 | 8.419 | Deleterious |
| 1543 | 17 | 7674229 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674229 | 7674229 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon3:c.G338T:p.G113V,TP53:NM_001126116:exon3:c.G338T:p.G113V,TP53:NM_001126117:exon3:c.G338T:p.G113V,TP53:NM_001276697:exon3:c.G257T:p.G86V,TP53:NM_001276698:exon3:c.G257T:p.G86V,TP53:NM_001276699:exon3:c.G257T:p.G86V,TP53:NM_001126118:exon6:c.G617T:p.G206V,TP53:NM_000546:exon7:c.G734T:p.G245V,TP53:NM_001126112:exon7:c.G734T:p.G245V,TP53:NM_001126113:exon7:c.G734T:p.G245V,TP53:NM_001126114:exon7:c.G734T:p.G245V,TP53:NM_001276695:exon7:c.G617T:p.G206V,TP53:NM_001276696:exon7:c.G617T:p.G206V,TP53:NM_001276760:exon7:c.G617T:p.G206V,TP53:NM_001276761:exon7:c.G617T:p.G206V | 17p13.1 | . | rs121912656 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.255 | M | -7.62 | D | -7.82 | D | 0.992 | 6.984 | 33 | 0.998 | 0.993 | D | 0.903 | D | 0.995 | D | 0.722 | 0 | 4.62 | 0.871 | 0.848 | 0.999 | 0.987 | 15.362 | Deleterious |
| 1544 | 17 | 7674230 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674230 | 7674230 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon3:c.G337T:p.G113C,TP53:NM_001126116:exon3:c.G337T:p.G113C,TP53:NM_001126117:exon3:c.G337T:p.G113C,TP53:NM_001276697:exon3:c.G256T:p.G86C,TP53:NM_001276698:exon3:c.G256T:p.G86C,TP53:NM_001276699:exon3:c.G256T:p.G86C,TP53:NM_001126118:exon6:c.G616T:p.G206C,TP53:NM_000546:exon7:c.G733T:p.G245C,TP53:NM_001126112:exon7:c.G733T:p.G245C,TP53:NM_001126113:exon7:c.G733T:p.G245C,TP53:NM_001126114:exon7:c.G733T:p.G245C,TP53:NM_001276695:exon7:c.G616T:p.G206C,TP53:NM_001276696:exon7:c.G616T:p.G206C,TP53:NM_001276760:exon7:c.G616T:p.G206C,TP53:NM_001276761:exon7:c.G616T:p.G206C | 17p13.1 | . | rs28934575 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.255 | M | -7.65 | D | -7.85 | D | 0.991 | 7.765 | 35 | 0.997 | 0.993 | D | 0.903 | D | 0.995 | D | 0.722 | 0 | 4.62 | 0.871 | 0.848 | 0.998 | 0.973 | 15.362 | Deleterious |
| 1545 | 17 | 7674238 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674238 | 7674238 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon3:c.G329T:p.C110F,TP53:NM_001126116:exon3:c.G329T:p.C110F,TP53:NM_001126117:exon3:c.G329T:p.C110F,TP53:NM_001276697:exon3:c.G248T:p.C83F,TP53:NM_001276698:exon3:c.G248T:p.C83F,TP53:NM_001276699:exon3:c.G248T:p.C83F,TP53:NM_001126118:exon6:c.G608T:p.C203F,TP53:NM_000546:exon7:c.G725T:p.C242F,TP53:NM_001126112:exon7:c.G725T:p.C242F,TP53:NM_001126113:exon7:c.G725T:p.C242F,TP53:NM_001126114:exon7:c.G725T:p.C242F,TP53:NM_001276695:exon7:c.G608T:p.C203F,TP53:NM_001276696:exon7:c.G608T:p.C203F,TP53:NM_001276760:exon7:c.G608T:p.C203F,TP53:NM_001276761:exon7:c.G608T:p.C203F | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.345 | M | -7.99 | D | -9.51 | D | 0.989 | 7.089 | 33 | 0.993 | 0.993 | D | 0.877 | D | 0.997 | D | 0.722 | 0 | 4.62 | 0.871 | 0.848 | 1.000 | 0.998 | 15.362 | Deleterious |
| 1546 | 17 | 7674262 | A | G | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674262 | 7674262 | A | G | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon3:c.A305C:p.Y102S,TP53:NM_001126116:exon3:c.A305C:p.Y102S,TP53:NM_001126117:exon3:c.A305C:p.Y102S,TP53:NM_001276697:exon3:c.A224C:p.Y75S,TP53:NM_001276698:exon3:c.A224C:p.Y75S,TP53:NM_001276699:exon3:c.A224C:p.Y75S,TP53:NM_001126118:exon6:c.A584C:p.Y195S,TP53:NM_000546:exon7:c.A701C:p.Y234S,TP53:NM_001126112:exon7:c.A701C:p.Y234S,TP53:NM_001126113:exon7:c.A701C:p.Y234S,TP53:NM_001126114:exon7:c.A701C:p.Y234S,TP53:NM_001276695:exon7:c.A584C:p.Y195S,TP53:NM_001276696:exon7:c.A584C:p.Y195S,TP53:NM_001276760:exon7:c.A584C:p.Y195S,TP53:NM_001276761:exon7:c.A584C:p.Y195S | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.001 | D | 1.000 | D | 2.93 | M | -6.94 | D | -6.11 | D | 0.841 | 5.686 | 26.8 | 0.989 | 0.952 | D | 1.038 | D | 0.991 | D | 0.722 | 0 | 3.49 | 0.991 | 0.961 | 1.000 | 1.000 | 9.020 | Deleterious |
| 1547 | 17 | 7674872 | A | G | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674872 | 7674872 | A | G | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon2:c.A263C:p.Y88S,TP53:NM_001126116:exon2:c.A263C:p.Y88S,TP53:NM_001126117:exon2:c.A263C:p.Y88S,TP53:NM_001276697:exon2:c.A182C:p.Y61S,TP53:NM_001276698:exon2:c.A182C:p.Y61S,TP53:NM_001276699:exon2:c.A182C:p.Y61S,TP53:NM_001126118:exon5:c.A542C:p.Y181S,TP53:NM_000546:exon6:c.A659C:p.Y220S,TP53:NM_001126112:exon6:c.A659C:p.Y220S,TP53:NM_001126113:exon6:c.A659C:p.Y220S,TP53:NM_001126114:exon6:c.A659C:p.Y220S,TP53:NM_001276695:exon6:c.A542C:p.Y181S,TP53:NM_001276696:exon6:c.A542C:p.Y181S,TP53:NM_001276760:exon6:c.A542C:p.Y181S,TP53:NM_001276761:exon6:c.A542C:p.Y181S | 17p13.1 | . | rs121912666 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.02 | M | -7.03 | D | -8.08 | D | 0.962 | 6.859 | 33 | 0.990 | 0.992 | D | 0.954 | D | 0.992 | D | 0.732 | 0 | 5.28 | 0.015 | 0.964 | 0.254 | 0.999 | 13.475 | Deleterious |
| 1548 | 17 | 7674893 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674893 | 7674893 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon2:c.G242T:p.R81L,TP53:NM_001126116:exon2:c.G242T:p.R81L,TP53:NM_001126117:exon2:c.G242T:p.R81L,TP53:NM_001276697:exon2:c.G161T:p.R54L,TP53:NM_001276698:exon2:c.G161T:p.R54L,TP53:NM_001276699:exon2:c.G161T:p.R54L,TP53:NM_001126118:exon5:c.G521T:p.R174L,TP53:NM_000546:exon6:c.G638T:p.R213L,TP53:NM_001126112:exon6:c.G638T:p.R213L,TP53:NM_001126113:exon6:c.G638T:p.R213L,TP53:NM_001126114:exon6:c.G638T:p.R213L,TP53:NM_001276695:exon6:c.G521T:p.R174L,TP53:NM_001276696:exon6:c.G521T:p.R174L,TP53:NM_001276760:exon6:c.G521T:p.R174L,TP53:NM_001276761:exon6:c.G521T:p.R174L | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.315 | M | -7.3 | D | -6.26 | D | 0.92 | 7.379 | 34 | 0.998 | 0.994 | D | 0.949 | D | 0.994 | D | 0.722 | 0 | 4.32 | 0.871 | 0.852 | 0.117 | 0.999 | 11.781 | Deleterious |
| 1549 | 17 | 7674894 | C | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674894 | 7674894 | C | T | exonic | TP53 | . | synonymous SNV | TP53:NM_001126115:exon2:c.C241A:p.R81R,TP53:NM_001126116:exon2:c.C241A:p.R81R,TP53:NM_001126117:exon2:c.C241A:p.R81R,TP53:NM_001276697:exon2:c.C160A:p.R54R,TP53:NM_001276698:exon2:c.C160A:p.R54R,TP53:NM_001276699:exon2:c.C160A:p.R54R,TP53:NM_001126118:exon5:c.C520A:p.R174R,TP53:NM_000546:exon6:c.C637A:p.R213R,TP53:NM_001126112:exon6:c.C637A:p.R213R,TP53:NM_001126113:exon6:c.C637A:p.R213R,TP53:NM_001126114:exon6:c.C637A:p.R213R,TP53:NM_001276695:exon6:c.C520A:p.R174R,TP53:NM_001276696:exon6:c.C520A:p.R174R,TP53:NM_001276760:exon6:c.C520A:p.R174R,TP53:NM_001276761:exon6:c.C520A:p.R174R | 17p13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1550 | 17 | 7674945 | C | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7674945 | 7674945 | C | T | exonic | TP53 | . | synonymous SNV | TP53:NM_001126115:exon2:c.C190A:p.R64R,TP53:NM_001126116:exon2:c.C190A:p.R64R,TP53:NM_001126117:exon2:c.C190A:p.R64R,TP53:NM_001276697:exon2:c.C109A:p.R37R,TP53:NM_001276698:exon2:c.C109A:p.R37R,TP53:NM_001276699:exon2:c.C109A:p.R37R,TP53:NM_001126118:exon5:c.C469A:p.R157R,TP53:NM_000546:exon6:c.C586A:p.R196R,TP53:NM_001126112:exon6:c.C586A:p.R196R,TP53:NM_001126113:exon6:c.C586A:p.R196R,TP53:NM_001126114:exon6:c.C586A:p.R196R,TP53:NM_001276695:exon6:c.C469A:p.R157R,TP53:NM_001276696:exon6:c.C469A:p.R157R,TP53:NM_001276760:exon6:c.C469A:p.R157R,TP53:NM_001276761:exon6:c.C469A:p.R157R | 17p13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1551 | 17 | 7675070 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675070 | 7675070 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.G146T:p.R49L,TP53:NM_001126116:exon1:c.G146T:p.R49L,TP53:NM_001126117:exon1:c.G146T:p.R49L,TP53:NM_001276697:exon1:c.G65T:p.R22L,TP53:NM_001276698:exon1:c.G65T:p.R22L,TP53:NM_001276699:exon1:c.G65T:p.R22L,TP53:NM_001126118:exon4:c.G425T:p.R142L,TP53:NM_000546:exon5:c.G542T:p.R181L,TP53:NM_001126112:exon5:c.G542T:p.R181L,TP53:NM_001126113:exon5:c.G542T:p.R181L,TP53:NM_001126114:exon5:c.G542T:p.R181L,TP53:NM_001276695:exon5:c.G425T:p.R142L,TP53:NM_001276696:exon5:c.G425T:p.R142L,TP53:NM_001276760:exon5:c.G425T:p.R142L,TP53:NM_001276761:exon5:c.G425T:p.R142L | 17p13.1 | . | rs397514495 | 0.241 | T | 0.973 | D | 0.859 | P | 0.000 | D | 1.000 | D | 1.515 | L | -6.65 | D | -0.4 | N | 0.741 | 6.205 | 28.7 | 0.996 | 0.870 | D | 1.046 | D | 0.980 | D | 0.722 | 0 | 4.28 | 0.033 | 0.935 | 0.623 | 0.888 | 13.409 | Deleterious |
| 1552 | 17 | 7675088 | G | T | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675088 | 7675088 | G | T | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.G128A:p.R43H,TP53:NM_001126116:exon1:c.G128A:p.R43H,TP53:NM_001126117:exon1:c.G128A:p.R43H,TP53:NM_001276697:exon1:c.G47A:p.R16H,TP53:NM_001276698:exon1:c.G47A:p.R16H,TP53:NM_001276699:exon1:c.G47A:p.R16H,TP53:NM_001126118:exon4:c.G407A:p.R136H,TP53:NM_000546:exon5:c.G524A:p.R175H,TP53:NM_001126112:exon5:c.G524A:p.R175H,TP53:NM_001126113:exon5:c.G524A:p.R175H,TP53:NM_001126114:exon5:c.G524A:p.R175H,TP53:NM_001276695:exon5:c.G407A:p.R136H,TP53:NM_001276696:exon5:c.G407A:p.R136H,TP53:NM_001276760:exon5:c.G407A:p.R136H,TP53:NM_001276761:exon5:c.G407A:p.R136H | 17p13.1 | . | rs28934578 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 3.345 | M | -7.55 | D | -4.6 | D | 0.975 | 4.992 | 25.1 | 0.999 | 0.989 | D | 0.920 | D | 0.996 | D | 0.722 | 0 | 5.41 | 0.033 | 0.852 | 0.977 | 0.868 | 17.077 | Deleterious |
| 1553 | 17 | 7675088 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675088 | 7675088 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.G128T:p.R43L,TP53:NM_001126116:exon1:c.G128T:p.R43L,TP53:NM_001126117:exon1:c.G128T:p.R43L,TP53:NM_001276697:exon1:c.G47T:p.R16L,TP53:NM_001276698:exon1:c.G47T:p.R16L,TP53:NM_001276699:exon1:c.G47T:p.R16L,TP53:NM_001126118:exon4:c.G407T:p.R136L,TP53:NM_000546:exon5:c.G524T:p.R175L,TP53:NM_001126112:exon5:c.G524T:p.R175L,TP53:NM_001126113:exon5:c.G524T:p.R175L,TP53:NM_001126114:exon5:c.G524T:p.R175L,TP53:NM_001276695:exon5:c.G407T:p.R136L,TP53:NM_001276696:exon5:c.G407T:p.R136L,TP53:NM_001276760:exon5:c.G407T:p.R136L,TP53:NM_001276761:exon5:c.G407T:p.R136L | 17p13.1 | . | rs28934578 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.345 | M | -7.54 | D | -6.44 | D | 0.994 | 8.108 | 35 | 0.999 | 0.992 | D | 0.920 | D | 0.996 | D | 0.722 | 0 | 5.41 | 0.033 | 0.852 | 0.977 | 0.868 | 17.077 | Deleterious |
| 1554 | 17 | 7675095 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675095 | 7675095 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.G121T:p.V41L,TP53:NM_001126116:exon1:c.G121T:p.V41L,TP53:NM_001126117:exon1:c.G121T:p.V41L,TP53:NM_001276697:exon1:c.G40T:p.V14L,TP53:NM_001276698:exon1:c.G40T:p.V14L,TP53:NM_001276699:exon1:c.G40T:p.V14L,TP53:NM_001126118:exon4:c.G400T:p.V134L,TP53:NM_000546:exon5:c.G517T:p.V173L,TP53:NM_001126112:exon5:c.G517T:p.V173L,TP53:NM_001126113:exon5:c.G517T:p.V173L,TP53:NM_001126114:exon5:c.G517T:p.V173L,TP53:NM_001276695:exon5:c.G400T:p.V134L,TP53:NM_001276696:exon5:c.G400T:p.V134L,TP53:NM_001276760:exon5:c.G400T:p.V134L,TP53:NM_001276761:exon5:c.G400T:p.V134L | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.31 | M | -7.13 | D | -2.76 | D | 0.846 | 6.289 | 29.1 | 0.997 | 0.995 | D | 0.960 | D | 0.994 | D | 0.722 | 0 | 5.59 | 0.871 | 0.935 | 0.935 | 0.188 | 17.478 | Deleterious |
| 1555 | 17 | 7675119 | C | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675119 | 7675119 | C | T | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.C97A:p.Q33K,TP53:NM_001126116:exon1:c.C97A:p.Q33K,TP53:NM_001126117:exon1:c.C97A:p.Q33K,TP53:NM_001276697:exon1:c.C16A:p.Q6K,TP53:NM_001276698:exon1:c.C16A:p.Q6K,TP53:NM_001276699:exon1:c.C16A:p.Q6K,TP53:NM_001126118:exon4:c.C376A:p.Q126K,TP53:NM_000546:exon5:c.C493A:p.Q165K,TP53:NM_001126112:exon5:c.C493A:p.Q165K,TP53:NM_001126113:exon5:c.C493A:p.Q165K,TP53:NM_001126114:exon5:c.C493A:p.Q165K,TP53:NM_001276695:exon5:c.C376A:p.Q126K,TP53:NM_001276696:exon5:c.C376A:p.Q126K,TP53:NM_001276760:exon5:c.C376A:p.Q126K,TP53:NM_001276761:exon5:c.C376A:p.Q126K | 17p13.1 | . | . | 1.0 | T | 0.0 | B | 0.001 | B | 0.000 | N | 0.926 | D | -2.085 | N | -6.24 | D | 3.35 | N | 0.397 | -0.055 | 2.091 | 0.216 | 0.532 | D | 0.559 | D | 0.784 | D | 0.722 | 0 | 4.52 | 0.038 | -0.087 | 0.992 | 0.139 | 10.836 | Deleterious |
| 1556 | 17 | 7675139 | G | A | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675139 | 7675139 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.G77T:p.R26L,TP53:NM_001126116:exon1:c.G77T:p.R26L,TP53:NM_001126117:exon1:c.G77T:p.R26L,TP53:NM_001126118:exon4:c.G356T:p.R119L,TP53:NM_000546:exon5:c.G473T:p.R158L,TP53:NM_001126112:exon5:c.G473T:p.R158L,TP53:NM_001126113:exon5:c.G473T:p.R158L,TP53:NM_001126114:exon5:c.G473T:p.R158L,TP53:NM_001276695:exon5:c.G356T:p.R119L,TP53:NM_001276696:exon5:c.G356T:p.R119L,TP53:NM_001276760:exon5:c.G356T:p.R119L,TP53:NM_001276761:exon5:c.G356T:p.R119L | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.265 | M | -7.3 | D | -6.36 | D | 0.956 | 6.064 | 28.1 | 0.997 | 0.993 | D | 0.937 | D | 0.994 | D | 0.722 | 0 | 4.63 | 0.871 | 0.040 | 0.722 | 0.015 | 12.649 | Deleterious |
| 1557 | 17 | 7675157 | C | T | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675157 | 7675157 | C | T | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.C59A:p.P20Q,TP53:NM_001126116:exon1:c.C59A:p.P20Q,TP53:NM_001126117:exon1:c.C59A:p.P20Q,TP53:NM_001126118:exon4:c.C338A:p.P113Q,TP53:NM_000546:exon5:c.C455A:p.P152Q,TP53:NM_001126112:exon5:c.C455A:p.P152Q,TP53:NM_001126113:exon5:c.C455A:p.P152Q,TP53:NM_001126114:exon5:c.C455A:p.P152Q,TP53:NM_001276695:exon5:c.C338A:p.P113Q,TP53:NM_001276696:exon5:c.C338A:p.P113Q,TP53:NM_001276760:exon5:c.C338A:p.P113Q,TP53:NM_001276761:exon5:c.C338A:p.P113Q | 17p13.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.69 | M | -7.51 | D | -7.18 | D | 0.77 | 5.745 | 26.9 | 0.990 | 0.994 | D | 0.932 | D | 0.995 | D | 0.722 | 0 | 5.59 | 0.917 | 1.048 | 0.019 | 0.034 | 17.478 | Deleterious |
| 1558 | 17 | 7675161 | C | T | Pathogenic/Likely pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7675161 | 7675161 | C | T | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126115:exon1:c.C55A:p.P19T,TP53:NM_001126116:exon1:c.C55A:p.P19T,TP53:NM_001126117:exon1:c.C55A:p.P19T,TP53:NM_001126118:exon4:c.C334A:p.P112T,TP53:NM_000546:exon5:c.C451A:p.P151T,TP53:NM_001126112:exon5:c.C451A:p.P151T,TP53:NM_001126113:exon5:c.C451A:p.P151T,TP53:NM_001126114:exon5:c.C451A:p.P151T,TP53:NM_001276695:exon5:c.C334A:p.P112T,TP53:NM_001276696:exon5:c.C334A:p.P112T,TP53:NM_001276760:exon5:c.C334A:p.P112T,TP53:NM_001276761:exon5:c.C334A:p.P112T | 17p13.1 | . | rs28934874 | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 2.855 | M | -7.49 | D | -6.76 | D | 0.907 | 4.957 | 25.0 | 0.997 | 0.992 | D | 0.931 | D | 0.995 | D | 0.722 | 0 | 5.59 | 0.917 | 1.048 | 0.044 | 0.036 | 17.478 | Deleterious |
| 1559 | 17 | 7676096 | G | A | Pathogenic | TP53 | . | . | . | . | . | . | . | . | . | . | 17 | 7676096 | 7676096 | G | A | exonic | TP53 | . | nonsynonymous SNV | TP53:NM_001126118:exon3:c.G156T:p.W52C,TP53:NM_000546:exon4:c.G273T:p.W91C,TP53:NM_001126112:exon4:c.G273T:p.W91C,TP53:NM_001126113:exon4:c.G273T:p.W91C,TP53:NM_001126114:exon4:c.G273T:p.W91C,TP53:NM_001276695:exon4:c.G156T:p.W52C,TP53:NM_001276696:exon4:c.G156T:p.W52C,TP53:NM_001276760:exon4:c.G156T:p.W52C,TP53:NM_001276761:exon4:c.G156T:p.W52C | 17p13.1 | . | . | 0.075 | T | 1.0 | D | 0.987 | D | 0.058 | N | 1.000 | D | 0.805 | L | -2.11 | D | -0.1 | N | 0.647 | 3.745 | 23.3 | 0.993 | 0.890 | D | 0.973 | D | 0.949 | D | 0.722 | 0 | 4.62 | 0.598 | 0.935 | 0.501 | 0.954 | 8.848 | Deleterious |
| 1560 | 17 | 8075687 | A | G | Pathogenic | ALOX12B | . | . | . | . | . | . | . | . | . | . | 17 | 8075687 | 8075687 | A | G | exonic | ALOX12B | . | nonsynonymous SNV | ALOX12B:NM_001139:exon12:c.A1562C:p.Y521S | 17p13.1 | . | . | 0.025 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.715 | H | -4.11 | D | -8.5 | D | 0.931 | 6.142 | 28.4 | 0.992 | 0.984 | D | 1.088 | D | 0.951 | D | 0.447 | 0 | 4.44 | 0.991 | 1.061 | 0.953 | 0.954 | 12.660 | Deleterious |
| 1561 | 17 | 15239545 | T | C | Pathogenic/Likely pathogenic | PMP22 | . | . | . | . | . | . | . | . | . | . | 17 | 15239545 | 15239545 | T | C | exonic | PMP22 | . | nonsynonymous SNV | PMP22:NM_153322:exon3:c.T245G:p.L82R,PMP22:NM_000304:exon4:c.T245G:p.L82R,PMP22:NM_001281455:exon4:c.T245G:p.L82R,PMP22:NM_001281456:exon4:c.T245G:p.L82R,PMP22:NM_153321:exon4:c.T245G:p.L82R | 17p12 | . | . | 0.008 | D | 0.996 | D | 0.897 | P | 0.004 | N | 1 | D | 2.28 | M | -2.82 | D | -4.13 | D | 0.853 | 5.435 | 26.1 | 0.943 | 0.971 | D | 0.726 | D | 0.805 | D | 0.707 | 0 | 4.52 | 1.062 | 0.203 | 1.000 | 0.997 | 12.792 | Deleterious |
| 1562 | 17 | 16316686 | T | C | Pathogenic | PIGL | . | . | . | . | . | . | . | . | . | . | 17 | 16316686 | 16316686 | T | C | exonic | PIGL | . | nonsynonymous SNV | PIGL:NM_004278:exon5:c.T500C:p.L167P | 17p11.2 | 0.0006 | rs145303331 | 0.001 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.125 | M | -1.13 | T | -5.64 | D | 0.99 | 5.328 | 25.8 | 0.999 | 0.966 | D | 0.402 | D | 0.662 | D | 0.732 | 0 | 4.86 | 0.991 | 1.061 | 0.850 | 0.992 | 12.716 | Deleterious |
| 1563 | 17 | 17214990 | G | A | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17214990 | 17214990 | G | A | exonic | FLCN | . | nonsynonymous SNV | FLCN:NM_144997:exon13:c.G1533T:p.W511C | 17p11.2 | . | . | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 0.975 | L | -4.62 | D | -9.8 | D | 0.971 | 7.408 | 34 | 0.992 | 0.990 | D | 1.074 | D | 0.921 | D | 0.707 | 0 | 4.79 | 0.871 | 0.935 | 1.000 | 1.000 | 14.745 | Deleterious |
| 1564 | 17 | 17215092 | A | G | Pathogenic/Likely pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17215092 | 17215092 | A | G | splicing | FLCN | NM_144997:exon13:c.1433-2T>C | . | . | 17p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.604 | 23.2 | 0.977 | 0.962 | D | . | . | . | . | 0.099 | 0 | 5.21 | 0.991 | 1.061 | 0.707 | 0.060 | 15.374 | Deleterious (FATHMM) |
| 1565 | 17 | 17215184 | G | A | Pathogenic/Likely pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17215184 | 17215184 | G | A | splicing | FLCN | NM_144997:exon12:c.1432+1C>T | . | . | 17p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.897 | 27.5 | 0.996 | 0.984 | D | . | . | . | . | 0.257 | 0 | 5.03 | 0.871 | 0.852 | 0.911 | 0.988 | 18.717 | Deleterious (FATHMM) |
| 1566 | 17 | 17215188 | C | T | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17215188 | 17215188 | C | T | exonic | FLCN | . | synonymous SNV | FLCN:NM_144997:exon12:c.C1429A:p.R477R | 17p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1567 | 17 | 17215228 | C | G | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17215228 | 17215228 | C | G | exonic | FLCN | . | synonymous SNV | FLCN:NM_144997:exon12:c.C1389C:p.Y463Y | 17p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1568 | 17 | 17217128 | C | T | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17217128 | 17217128 | C | T | exonic | FLCN | . | nonsynonymous SNV | FLCN:NM_144997:exon10:c.C1117A:p.Q373K | 17p11.2 | . | rs398124524 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 2.19 | M | -4.17 | D | -2.81 | D | 0.944 | 6.531 | 31 | 0.997 | 0.979 | D | 1.050 | D | 0.935 | D | 0.707 | 0 | 6.06 | 0.917 | 1.048 | 0.996 | 0.998 | 20.628 | Deleterious |
| 1569 | 17 | 17219206 | T | G | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17219206 | 17219206 | T | G | exonic | FLCN | . | nonsynonymous SNV | FLCN:NM_144997:exon9:c.T875C:p.L292S | 17p11.2 | . | . | 0.03 | D | 0.495 | P | 0.13 | B | 0.000 | D | 0.996 | D | 1.61 | L | -3.13 | D | -0.88 | N | 0.863 | 3.196 | 22.7 | 0.996 | 0.979 | D | 0.227 | D | 0.659 | D | 0.707 | 0 | 5.97 | 1.062 | 1.199 | 0.874 | 0.986 | 16.450 | Deleterious |
| 1570 | 17 | 17222500 | G | T | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17222500 | 17222500 | G | T | splicing | FLCN | NM_144997:exon7:c.779+1C>A,NM_144606:exon7:c.779+1C>A | . | . | 17p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.861 | 27.3 | 0.995 | 0.985 | D | . | . | . | . | 0.257 | 0 | 5.71 | 0.871 | 0.935 | 0.972 | 0.930 | 19.843 | Deleterious (FATHMM) |
| 1571 | 17 | 17224041 | C | T | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17224041 | 17224041 | C | T | exonic | FLCN | . | nonsynonymous SNV | FLCN:NM_144606:exon6:c.C499A:p.Q167K,FLCN:NM_144997:exon6:c.C499A:p.Q167K | 17p11.2 | . | . | 0.206 | T | 0.996 | D | 0.979 | D | 0.000 | D | 1 | D | 0.945 | L | -2.33 | D | -1.73 | N | 0.764 | 2.815 | 21.4 | 0.996 | 0.993 | D | 0.118 | D | 0.668 | D | 0.732 | 0 | 5.74 | 0.917 | 1.048 | 1.000 | 1.000 | 19.270 | Deleterious |
| 1572 | 17 | 17226226 | C | T | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17226226 | 17226226 | C | T | exonic | FLCN | . | nonsynonymous SNV | FLCN:NM_144606:exon5:c.C346A:p.Q116K,FLCN:NM_144997:exon5:c.C346A:p.Q116K | 17p11.2 | . | rs398124536 | 0.085 | T | 0.989 | D | 0.89 | P | 0.000 | D | 1.000 | D | 0.83 | L | -2.34 | D | -1.39 | N | 0.597 | 3.079 | 22.5 | 0.996 | 0.991 | D | 0.241 | D | 0.649 | D | 0.707 | 0 | 5.84 | 0.917 | 1.045 | 0.989 | 0.999 | 19.116 | Deleterious |
| 1573 | 17 | 17226323 | G | A | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17226323 | 17226323 | G | A | splicing | FLCN | NM_144997:exon5:c.250-1C>T,NM_144606:exon5:c.250-1C>T | . | . | 17p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.103 | 25.3 | 0.995 | 0.989 | D | . | . | . | . | 0.295 | 0 | 4.66 | 0.871 | 0.932 | 0.848 | 0.934 | 13.521 | Deleterious (FATHMM) |
| 1574 | 17 | 17226324 | A | G | Pathogenic | FLCN | . | . | . | . | . | . | . | . | . | . | 17 | 17226324 | 17226324 | A | G | splicing | FLCN | NM_144997:exon5:c.250-2T>C,NM_144606:exon5:c.250-2T>C | . | . | 17p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.414 | 24.1 | 0.990 | 0.987 | D | . | . | . | . | 0.156 | 0 | 4.56 | 0.991 | 1.058 | 0.695 | 0.861 | 10.665 | Deleterious (FATHMM) |
| 1575 | 17 | 19663335 | C | T | Pathogenic | ALDH3A2 | . | . | . | . | . | . | . | . | . | . | 17 | 19663335 | 19663335 | C | T | exonic | ALDH3A2 | . | nonsynonymous SNV | ALDH3A2:NM_000382:exon7:c.C943T:p.P315S,ALDH3A2:NM_001031806:exon7:c.C943T:p.P315S | 17p11.2 | . | rs72547571 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | A | 3.985 | H | -2.6 | D | -7.82 | D | 0.944 | 6.603 | 31 | 0.935 | 0.954 | D | 1.050 | D | 0.892 | D | 0.722 | 0 | 5.12 | 0.824 | 0.919 | 0.972 | 0.984 | 17.577 | Deleterious |
| 1576 | 17 | 31095340 | C | T | Pathogenic/Likely pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31095340 | 31095340 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon1:c.C31T:p.Q11X,NF1:NM_001042492:exon1:c.C31T:p.Q11X,NF1:NM_001128147:exon1:c.C31T:p.Q11X | 17q11.2 | . | . | . | . | . | . | . | . | 0.000 | U | 1 | A | . | . | . | . | . | . | . | 8.922 | 35 | 0.997 | 0.461 | N | . | . | . | . | 0.267 | 1 | 2.6 | -0.089 | 0.724 | 0.995 | 1.000 | 10.920 | Deleterious (DANN) |
| 1577 | 17 | 31181460 | C | T | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31181460 | 31181460 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon6:c.C625T:p.Q209X,NF1:NM_001042492:exon6:c.C625T:p.Q209X,NF1:NM_001128147:exon6:c.C625T:p.Q209X | 17q11.2 | . | rs786203448 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.900 | 37 | 0.998 | 0.981 | D | . | . | . | . | 0.706 | 0 | 5.39 | 0.871 | 0.807 | 0.991 | 0.997 | 14.044 | Deleterious (FATHMM) |
| 1578 | 17 | 31206297 | C | T | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31206297 | 31206297 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon12:c.C1318T:p.R440X,NF1:NM_001042492:exon12:c.C1318T:p.R440X,NF1:NM_001128147:exon12:c.C1318T:p.R440X | 17q11.2 | . | rs778405030 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.328 | 37 | 0.997 | 0.979 | D | . | . | . | . | 0.732 | 0 | 5.2 | 0.871 | 0.044 | 0.999 | 0.999 | 17.001 | Deleterious (FATHMM) |
| 1579 | 17 | 31206360 | C | T | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31206360 | 31206360 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon12:c.C1381T:p.R461X,NF1:NM_001042492:exon12:c.C1381T:p.R461X,NF1:NM_001128147:exon12:c.C1381T:p.R461X | 17q11.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.128 | 38 | 0.997 | 0.987 | D | . | . | . | . | 0.651 | 0 | 4.16 | 0.871 | 0.038 | 1.000 | 0.998 | 15.853 | Deleterious (FATHMM) |
| 1580 | 17 | 31225134 | G | A | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31225134 | 31225134 | G | A | exonic | NF1 | . | nonsynonymous SNV | NF1:NM_000267:exon17:c.G1885A:p.G629R,NF1:NM_001042492:exon17:c.G1885A:p.G629R | 17q11.2 | . | rs199474738 | 0.071 | T | 1.0 | D | 0.996 | D | 0.000 | D | 0.999 | D | 0 | N | 3.41 | T | -1.36 | N | 0.957 | 1.885 | 15.50 | 0.991 | 0.982 | D | -0.940 | T | 0.032 | T | 0.706 | 0 | 5.26 | 0.917 | 1.048 | 0.998 | 0.829 | 15.853 | Tolerated |
| 1581 | 17 | 31227254 | T | C | Pathogenic/Likely pathogenic, not provided | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31227254 | 31227254 | T | C | exonic | NF1 | . | nonsynonymous SNV | NF1:NM_000267:exon19:c.T2288C:p.L763P,NF1:NM_001042492:exon19:c.T2288C:p.L763P | 17q11.2 | . | rs199474762 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 1.685 | L | 1.21 | T | -5.12 | D | 0.998 | 6.440 | 29.8 | 0.999 | 0.988 | D | -0.119 | T | 0.430 | T | 0.719 | 0 | 5.25 | 0.991 | 1.061 | 0.999 | 0.996 | 15.440 | Tolerated |
| 1582 | 17 | 31230384 | T | G | Pathogenic/Likely pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31230384 | 31230384 | T | G | splicing | NF1 | NM_000267:exon23:c.3113+2T>G,NM_001042492:exon23:c.3113+2T>G | . | . | 17q11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.041 | 25.2 | 0.992 | 0.987 | D | . | . | . | . | 0.089 | 0 | 5.33 | 0.991 | 1.011 | 0.999 | 1.000 | 15.297 | Deleterious (FATHMM) |
| 1583 | 17 | 31235623 | C | T | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31235623 | 31235623 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon28:c.C3721T:p.R1241X,NF1:NM_001042492:exon28:c.C3721T:p.R1241X | 17q11.2 | . | rs137854562 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.300 | 41 | 0.998 | 0.942 | D | . | . | . | . | 0.615 | 0 | 4.8 | 0.871 | 0.935 | 0.999 | 1.000 | 16.124 | Deleterious (FATHMM) |
| 1584 | 17 | 31235728 | C | T | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31235728 | 31235728 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon28:c.C3826T:p.R1276X,NF1:NM_001042492:exon28:c.C3826T:p.R1276X | 17q11.2 | . | rs199474742 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.752 | 43 | 0.998 | 0.917 | D | . | . | . | . | 0.719 | 0 | 5.15 | -0.058 | 0.935 | 0.989 | 0.999 | 14.734 | Deleterious (FATHMM) |
| 1585 | 17 | 31261733 | C | T | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31261733 | 31261733 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon34:c.C4537T:p.R1513X,NF1:NM_001042492:exon35:c.C4600T:p.R1534X | 17q11.2 | . | rs760703505 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.578 | 42 | 0.997 | 0.934 | D | . | . | . | . | 0.707 | 0 | 5.44 | 0.871 | 0.935 | 1.000 | 1.000 | 13.250 | Deleterious (FATHMM) |
| 1586 | 17 | 31338739 | C | A | Pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31338739 | 31338739 | C | A | exonic | NF1 | . | stopgain | NF1:NM_000267:exon45:c.C6792A:p.Y2264X,NF1:NM_001042492:exon46:c.C6855A:p.Y2285X | 17q11.2 | . | rs772295894 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.147 | 44 | 0.996 | 0.976 | D | . | . | . | . | 0.732 | 0 | 4.94 | 0.871 | 0.935 | 1.000 | 1.000 | 9.921 | Deleterious (FATHMM) |
| 1587 | 17 | 31357308 | C | T | Pathogenic/Likely pathogenic | NF1 | . | . | . | . | . | . | . | . | . | . | 17 | 31357308 | 31357308 | C | T | exonic | NF1 | . | stopgain | NF1:NM_000267:exon53:c.C7846T:p.R2616X,NF1:NM_001042492:exon54:c.C7909T:p.R2637X | 17q11.2 | . | rs786201367 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.528 | 42 | 0.996 | 0.913 | D | . | . | . | . | 0.732 | 0 | 3.93 | 0.871 | 0.015 | 0.991 | 0.998 | 14.430 | Deleterious (FATHMM) |
| 1588 | 17 | 35101347 | C | T | Pathogenic, risk factor | RAD51D|RAD51L3-RFFL | . | . | . | . | . | . | . | . | . | . | 17 | 35101347 | 35101347 | C | T | exonic | RAD51D | . | synonymous SNV | RAD51D:NM_133629:exon6:c.C421A:p.R141R,RAD51D:NM_001142571:exon9:c.C817A:p.R273R,RAD51D:NM_002878:exon9:c.C757A:p.R253R | 17q12 | . | rs137886232 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1589 | 17 | 35103298 | C | T | Pathogenic | RAD51D|RAD51L3-RFFL | . | . | . | . | . | . | . | . | . | . | 17 | 35103298 | 35103298 | C | T | exonic | RAD51D | . | synonymous SNV | RAD51D:NM_133629:exon5:c.C358A:p.R120R,RAD51D:NM_001142571:exon8:c.C754A:p.R252R,RAD51D:NM_002878:exon8:c.C694A:p.R232R | 17q12 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1590 | 17 | 35106406 | C | T | Pathogenic, risk factor | RAD51D|RAD51L3-RFFL | . | . | . | . | . | . | . | . | . | . | 17 | 35106406 | 35106406 | C | T | exonic | RAD51D | . | synonymous SNV | RAD51D:NM_133629:exon3:c.C220A:p.R74R,RAD51D:NM_001142571:exon6:c.C616A:p.R206R,RAD51D:NM_002878:exon6:c.C556A:p.R186R | 17q12 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1591 | 17 | 42316899 | C | T | Pathogenic | STAT3 | . | . | . | . | . | . | . | . | . | . | 17 | 42316899 | 42316899 | C | T | exonic | STAT3 | . | nonsynonymous SNV | STAT3:NM_003150:exon23:c.C2144A:p.T715K,STAT3:NM_139276:exon23:c.C2147A:p.T716K | 17q21.2 | . | . | 0.277 | T | 0.872 | P | 0.357 | B | 0.000 | D | 1 | D | 0.455 | N | -4.24 | D | -0.49 | N | 0.71 | 1.913 | 15.67 | 0.973 | 0.952 | D | 0.308 | D | 0.720 | D | 0.722 | 0 | 3.13 | 0.917 | -0.222 | 1.000 | 0.998 | 11.248 | Deleterious |
| 1592 | 17 | 42329448 | G | A | Pathogenic/Likely pathogenic | STAT3 | . | . | . | . | . | . | . | . | . | . | 17 | 42329448 | 42329448 | G | A | exonic | STAT3 | . | stopgain | STAT3:NM_003150:exon14:c.G1243T:p.E415X,STAT3:NM_139276:exon14:c.G1243T:p.E415X,STAT3:NM_213662:exon14:c.G1243T:p.E415X | 17q21.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.232 | 45 | 0.996 | 0.993 | D | . | . | . | . | 0.731 | 0 | 5.49 | 0.871 | 0.935 | 1.000 | 1.000 | 19.576 | Deleterious (FATHMM) |
| 1593 | 17 | 42541074 | C | T | Pathogenic | NAGLU | . | . | . | . | . | . | . | . | . | . | 17 | 42541074 | 42541074 | C | T | exonic | NAGLU | . | stopgain | NAGLU:NM_000263:exon5:c.C889T:p.R297X | 17q21.2 | 7.7e-05 | rs104894592 | . | . | . | . | . | . | 0.987 | N | 1 | A | . | . | . | . | . | . | . | 9.769 | 36 | 0.997 | 0.476 | N | . | . | . | . | 0.722 | 0 | 1.67 | -0.058 | -0.381 | 0.994 | 0.944 | 6.356 | Deleterious (DANN) |
| 1594 | 17 | 42903947 | C | T | Pathogenic | G6PC | . | . | . | . | . | . | . | . | . | . | 17 | 42903947 | 42903947 | C | T | exonic | G6PC | . | nonsynonymous SNV | G6PC:NM_000151:exon2:c.C247T:p.R83C,G6PC:NM_001270397:exon2:c.C247T:p.R83C | 17q21.31 | 0.0005 | rs1801175 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 4.245 | H | -2.19 | D | -6.9 | D | 0.989 | 7.756 | 35 | 0.999 | 0.861 | D | 0.998 | D | 0.861 | D | 0.497 | 0 | 4.93 | 0.871 | 0.892 | 0.996 | 0.979 | 11.236 | Deleterious |
| 1595 | 17 | 42911235 | C | T | Pathogenic/Likely pathogenic | G6PC | . | . | . | . | . | . | . | . | . | . | 17 | 42911235 | 42911235 | C | T | exonic | G6PC | . | nonsynonymous SNV | G6PC:NM_000151:exon5:c.C883T:p.R295C | 17q21.31 | . | rs104894563 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | A | 2.44 | M | -1.11 | T | -3.43 | D | 0.811 | 7.657 | 35 | 0.999 | 0.906 | D | 0.392 | D | 0.647 | D | 0.447 | 0 | 5.07 | 0.871 | 0.843 | 0.801 | 0.969 | 18.643 | Deleterious |
| 1596 | 17 | 42911321 | C | A | Pathogenic/Likely pathogenic | G6PC | . | . | . | . | . | . | . | . | . | . | 17 | 42911321 | 42911321 | C | A | exonic | G6PC | . | stopgain | G6PC:NM_000151:exon5:c.C969A:p.Y323X | 17q21.31 | . | rs780226142 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 6.358 | 29.4 | 0.984 | 0.260 | N | . | . | . | . | 0.549 | 0 | -5.67 | 0.871 | 0.011 | 0.967 | 0.672 | 15.069 | Deleterious (DANN) |
| 1597 | 17 | 42911391 | C | T | Pathogenic | G6PC | . | . | . | . | . | . | . | . | . | . | 17 | 42911391 | 42911391 | C | T | exonic | G6PC | . | stopgain | G6PC:NM_000151:exon5:c.C1039T:p.Q347X | 17q21.31 | 0.0007 | rs80356487 | . | . | . | . | . | . | 0.433 | N | 1.000 | A | . | . | . | . | . | . | . | 7.792 | 35 | 0.906 | 0.206 | N | . | . | . | . | 0.447 | 0 | -1.8 | 0.871 | 0.011 | 0.911 | 0.824 | 10.427 | |
| 1598 | 17 | 43047641 | T | C | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43047641 | 43047641 | T | C | splicing | BRCA1 | NM_007297:exon21:c.5326+2A>G,NM_007294:exon22:c.5467+2A>G,NM_007298:exon21:c.2155+2A>G,NM_007299:exon21:c.2081+2A>G,NM_007300:exon23:c.5530+2A>G | . | . | 17q21.31 | . | rs80358009 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.170 | 23.8 | 0.987 | 0.928 | D | . | . | . | . | 0.295 | 0 | 4.98 | 1.062 | 1.083 | 0.566 | 0.189 | 10.983 | Deleterious (FATHMM) |
| 1599 | 17 | 43047642 | G | A | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43047642 | 43047642 | G | A | splicing | BRCA1 | NM_007297:exon21:c.5326+1C>T,NM_007294:exon22:c.5467+1C>T,NM_007298:exon21:c.2155+1C>T,NM_007299:exon21:c.2081+1C>T,NM_007300:exon23:c.5530+1C>T | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.021 | 25.2 | 0.991 | 0.908 | D | . | . | . | . | 0.295 | 0 | 4.98 | 0.871 | 0.848 | 0.540 | 0.185 | 13.620 | Deleterious (FATHMM) |
| 1600 | 17 | 43051118 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43051118 | 43051118 | G | T | splicing | BRCA1 | NM_007297:exon19:c.5137-1C>A,NM_007294:exon20:c.5278-1C>A,NM_007298:exon19:c.1966-1C>A,NM_007299:exon20:c.1966-1C>A,NM_007300:exon21:c.5341-1C>A | . | . | 17q21.31 | . | rs80358099 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.343 | 25.9 | 0.992 | 0.892 | D | . | . | . | . | 0.295 | 0 | 5.06 | 0.871 | 0.935 | 0.990 | 0.941 | 14.128 | Deleterious (FATHMM) |
| 1601 | 17 | 43051118 | G | C | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43051118 | 43051118 | G | C | splicing | BRCA1 | NM_007297:exon19:c.5137-1C>G,NM_007294:exon20:c.5278-1C>G,NM_007298:exon19:c.1966-1C>G,NM_007299:exon20:c.1966-1C>G,NM_007300:exon21:c.5341-1C>G | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1602 | 17 | 43057137 | A | G | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43057137 | 43057137 | A | G | splicing | BRCA1 | NM_007297:exon18:c.5053-2T>C,NM_007294:exon19:c.5194-2T>C,NM_007298:exon18:c.1882-2T>C,NM_007299:exon19:c.1882-2T>C,NM_007300:exon20:c.5257-2T>C | . | . | 17q21.31 | . | rs80358069 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.784 | 24.7 | 0.988 | 0.943 | D | . | . | . | . | 0.106 | 0 | 5.07 | 0.991 | 1.055 | 0.970 | 0.982 | 11.15 | Deleterious (FATHMM) |
| 1603 | 17 | 43063332 | G | C | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43063332 | 43063332 | G | C | splicing | BRCA1 | NM_007297:exon17:c.5052+1C>G,NM_007294:exon18:c.5193+1C>G,NM_007298:exon17:c.1881+1C>G,NM_007299:exon18:c.1881+1C>G,NM_007300:exon19:c.5256+1C>G | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1604 | 17 | 43063375 | A | G | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43063375 | 43063375 | A | G | splicing | BRCA1 | NM_007297:exon17:c.5012-2T>C,NM_007294:exon18:c.5153-2T>C,NM_007298:exon17:c.1841-2T>C,NM_007299:exon18:c.1841-2T>C,NM_007300:exon19:c.5216-2T>C | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.885 | 24.9 | 0.987 | 0.945 | D | . | . | . | . | 0.106 | 0 | 5.46 | 0.991 | 0.913 | 0.698 | 0.989 | 12.213 | Deleterious (FATHMM) |
| 1605 | 17 | 43063873 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43063873 | 43063873 | G | A | splicing | BRCA1 | NM_007297:exon16:c.5011+1C>T,NM_007294:exon17:c.5152+1C>T,NM_007298:exon16:c.1840+1C>T,NM_007299:exon17:c.1840+1C>T,NM_007300:exon18:c.5215+1C>T | . | . | 17q21.31 | . | rs80358094 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.682 | 26.8 | 0.993 | 0.987 | D | . | . | . | . | 0.295 | 0 | 6.04 | 0.871 | 0.876 | 0.967 | 0.996 | 16.079 | Deleterious (FATHMM) |
| 1606 | 17 | 43063873 | G | C | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43063873 | 43063873 | G | C | splicing | BRCA1 | NM_007297:exon16:c.5011+1C>G,NM_007294:exon17:c.5152+1C>G,NM_007298:exon16:c.1840+1C>G,NM_007299:exon17:c.1840+1C>G,NM_007300:exon18:c.5215+1C>G | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1607 | 17 | 43063953 | A | G | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43063953 | 43063953 | A | G | splicing | BRCA1 | NM_007297:exon16:c.4934-2T>C,NM_007294:exon17:c.5075-2T>C,NM_007298:exon16:c.1763-2T>C,NM_007299:exon17:c.1763-2T>C,NM_007300:exon18:c.5138-2T>C | . | . | 17q21.31 | . | rs80358066 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.800 | 24.8 | 0.989 | 0.944 | D | . | . | . | . | 0.162 | 0 | 5.83 | 0.991 | 0.993 | 0.972 | 1.000 | 12.594 | Deleterious (FATHMM) |
| 1608 | 17 | 43067608 | G | C | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43067608 | 43067608 | G | C | exonic | BRCA1 | . | synonymous SNV | BRCA1:NM_007297:exon15:c.G4933G:p.D1645D,BRCA1:NM_007298:exon15:c.G1762G:p.D588D,BRCA1:NM_007294:exon16:c.G5074G:p.D1692D,BRCA1:NM_007299:exon16:c.G1762G:p.D588D,BRCA1:NM_007300:exon17:c.G5137G:p.D1713D | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1609 | 17 | 43067608 | G | A | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43067608 | 43067608 | G | A | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007297:exon15:c.G4933T:p.D1645Y,BRCA1:NM_007298:exon15:c.G1762T:p.D588Y,BRCA1:NM_007294:exon16:c.G5074T:p.D1692Y,BRCA1:NM_007299:exon16:c.G1762T:p.D588Y,BRCA1:NM_007300:exon17:c.G5137T:p.D1713Y | 17q21.31 | . | rs80187739 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.775 | M | -1.25 | T | -1.24 | N | 0.947 | 5.624 | 26.6 | 0.995 | 0.935 | D | 0.428 | D | 0.653 | D | 0.706 | 0 | 5.24 | 0.871 | 0.770 | 0.994 | 0.984 | 14.674 | Deleterious |
| 1610 | 17 | 43067697 | A | G | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43067697 | 43067697 | A | G | splicing | BRCA1 | NM_007297:exon15:c.4846-2T>C,NM_007294:exon16:c.4987-2T>C,NM_007298:exon15:c.1675-2T>C,NM_007299:exon16:c.1675-2T>C,NM_007300:exon17:c.5050-2T>C | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.003 | 23.6 | 0.986 | 0.937 | D | . | . | . | . | 0.106 | 0 | 5.24 | 0.991 | 0.871 | 0.988 | 0.571 | 11.812 | Deleterious (FATHMM) |
| 1611 | 17 | 43070922 | T | G | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43070922 | 43070922 | T | G | intronic | BRCA1 | . | . | . | 17q21.31 | . | rs80358086 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1612 | 17 | 43070922 | T | C | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43070922 | 43070922 | T | C | intronic | BRCA1 | . | . | . | 17q21.31 | . | rs80358086 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1613 | 17 | 43070924 | A | T | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43070924 | 43070924 | A | T | intronic | BRCA1 | . | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1614 | 17 | 43071239 | G | A | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43071239 | 43071239 | G | A | splicing | BRCA1 | NM_007297:exon14:c.4535-1C>T,NM_007294:exon15:c.4676-1C>T,NM_007298:exon14:c.1364-1C>T,NM_007299:exon15:c.1364-1C>T,NM_007300:exon16:c.4739-1C>T | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.003 | 23.6 | 0.969 | 0.901 | D | . | . | . | . | 0.295 | 0 | 4.78 | 0.871 | 0.935 | 0.680 | 0.452 | 13.507 | Deleterious (FATHMM) |
| 1615 | 17 | 43074331 | G | C | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43074331 | 43074331 | G | C | exonic | BRCA1 | . | synonymous SNV | BRCA1:NM_007297:exon13:c.G4534G:p.E1512E,BRCA1:NM_007298:exon13:c.G1363G:p.E455E,BRCA1:NM_007294:exon14:c.G4675G:p.E1559E,BRCA1:NM_007299:exon14:c.G1363G:p.E455E,BRCA1:NM_007300:exon15:c.G4738G:p.E1580E | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1616 | 17 | 43074331 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43074331 | 43074331 | G | A | exonic | BRCA1 | . | stopgain | BRCA1:NM_007297:exon13:c.G4534T:p.E1512X,BRCA1:NM_007298:exon13:c.G1363T:p.E455X,BRCA1:NM_007294:exon14:c.G4675T:p.E1559X,BRCA1:NM_007299:exon14:c.G1363T:p.E455X,BRCA1:NM_007300:exon15:c.G4738T:p.E1580X | 17q21.31 | . | . | . | . | . | . | . | . | 0.001 | N | 1 | A | . | . | . | . | . | . | . | 15.046 | 49 | 0.997 | 0.968 | D | . | . | . | . | 0.732 | 0 | 5.54 | 0.871 | 0.928 | 0.416 | 0.993 | 14.857 | Deleterious (FATHMM) |
| 1617 | 17 | 43074522 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43074522 | 43074522 | G | T | splicing | BRCA1 | NM_007297:exon13:c.4344-1C>A,NM_007294:exon14:c.4485-1C>A,NM_007298:exon13:c.1173-1C>A,NM_007299:exon14:c.1173-1C>A,NM_007300:exon15:c.4548-1C>A | . | . | 17q21.31 | . | rs80358189 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | . | . | . | 2.505 | 19.50 | 0.924 | 0.676 | D | . | . | . | . | 0.295 | 0 | 4.19 | 0.871 | 0.928 | 0.720 | 0.073 | 9.434 | Deleterious (FATHMM) |
| 1618 | 17 | 43074522 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43074522 | 43074522 | G | A | splicing | BRCA1 | NM_007297:exon13:c.4344-1C>T,NM_007294:exon14:c.4485-1C>T,NM_007298:exon13:c.1173-1C>T,NM_007299:exon14:c.1173-1C>T,NM_007300:exon15:c.4548-1C>T | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | . | . | . | 2.734 | 21.0 | 0.931 | 0.733 | D | . | . | . | . | 0.295 | 0 | 4.19 | 0.871 | 0.928 | 0.720 | 0.073 | 9.434 | Deleterious (FATHMM) |
| 1619 | 17 | 43076488 | G | C | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43076488 | 43076488 | G | C | exonic | BRCA1 | . | synonymous SNV | BRCA1:NM_007297:exon12:c.G4343G:p.R1448R,BRCA1:NM_007298:exon12:c.G1172G:p.R391R,BRCA1:NM_007294:exon13:c.G4484G:p.R1495R,BRCA1:NM_007299:exon13:c.G1172G:p.R391R,BRCA1:NM_007300:exon14:c.G4547G:p.R1516R | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1620 | 17 | 43076488 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43076488 | 43076488 | G | T | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007297:exon12:c.G4343A:p.R1448K,BRCA1:NM_007298:exon12:c.G1172A:p.R391K,BRCA1:NM_007294:exon13:c.G4484A:p.R1495K,BRCA1:NM_007299:exon13:c.G1172A:p.R391K,BRCA1:NM_007300:exon14:c.G4547A:p.R1516K | 17q21.31 | . | rs80357389 | 0.192 | T | 0.932 | P | 0.815 | P | 0.122 | N | 1 | D | 1.1 | L | -1.91 | D | -0.38 | N | 0.647 | 4.045 | 23.7 | 0.988 | 0.859 | D | 0.452 | D | 0.709 | D | 0.706 | 0 | 4.97 | 0.871 | 0.935 | 0.124 | 0.639 | 13.587 | Deleterious |
| 1621 | 17 | 43082403 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43082403 | 43082403 | G | T | splicing | BRCA1 | NM_007297:exon11:c.4216+1C>A,NM_007294:exon12:c.4357+1C>A,NM_007298:exon11:c.1048+1C>A,NM_007299:exon12:c.1048+1C>A,NM_007300:exon12:c.4357+1C>A | . | . | 17q21.31 | . | rs80358027 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.350 | 25.9 | 0.990 | 0.954 | D | . | . | . | . | 0.156 | 0 | 5.26 | 0.871 | 0.935 | 0.106 | 0.165 | 15.725 | Deleterious (FATHMM) |
| 1622 | 17 | 43090944 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43090944 | 43090944 | G | A | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007297:exon10:c.G4044T:p.Q1348H,BRCA1:NM_007298:exon10:c.G876T:p.Q292H,BRCA1:NM_007294:exon11:c.G4185T:p.Q1395H,BRCA1:NM_007299:exon11:c.G876T:p.Q292H,BRCA1:NM_007300:exon11:c.G4185T:p.Q1395H | 17q21.31 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 1.1 | L | -2.21 | D | -0.91 | N | 0.62 | 6.938 | 33 | 0.997 | 0.969 | D | -0.835 | T | 0.213 | T | 0.707 | 0 | 4.66 | 0.871 | 0.852 | 0.989 | 0.998 | 16.277 | Tolerated |
| 1623 | 17 | 43091434 | G | A | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43091434 | 43091434 | G | A | splicing | BRCA1 | NM_007297:exon9:c.3955+1C>T,NM_007294:exon10:c.4096+1C>T,NM_007300:exon10:c.4096+1C>T | . | . | 17q21.31 | . | . | 0.24 | T | 1.0 | D | 0.999 | D | . | . | 1 | D | . | . | -2.48 | D | -1.17 | N | . | 5.633 | 26.6 | 0.992 | 0.965 | D | . | . | . | . | 0.156 | 0 | 5.31 | 0.871 | 0.852 | 0.827 | 0.974 | 16.293 | Deleterious (FATHMM) |
| 1624 | 17 | 43094861 | G | T | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43094861 | 43094861 | G | T | splicing | BRCA1 | NM_007297:exon9:c.530-1C>A,NM_007294:exon10:c.671-1C>A,NM_007298:exon9:c.671-1C>A,NM_007299:exon10:c.671-1C>A,NM_007300:exon10:c.671-1C>A | . | . | 17q21.31 | . | rs80358020 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.356 | 22.9 | 0.985 | 0.969 | D | . | . | . | . | 0.295 | 0 | 4.86 | 0.871 | 0.807 | 1.000 | 0.998 | 16.715 | Deleterious (FATHMM) |
| 1625 | 17 | 43095845 | G | T | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43095845 | 43095845 | G | T | splicing | BRCA1 | NM_007297:exon8:c.529+1C>A,NM_007294:exon9:c.670+1C>A,NM_007298:exon8:c.670+1C>A,NM_007299:exon9:c.670+1C>A,NM_007300:exon9:c.670+1C>A | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.346 | 24.1 | 0.945 | 0.730 | D | . | . | . | . | 0.156 | 0 | 2.56 | 0.871 | 0.848 | 0.948 | 0.992 | 7.181 | Deleterious (FATHMM) |
| 1626 | 17 | 43099774 | G | T | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43099774 | 43099774 | G | T | splicing | BRCA1 | NM_007297:exon6:c.406+1C>A,NM_007294:exon7:c.547+1C>A,NM_007298:exon6:c.547+1C>A,NM_007299:exon7:c.547+1C>A,NM_007300:exon7:c.547+1C>A | . | . | 17q21.31 | . | rs80358030 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.500 | 24.3 | 0.985 | 0.866 | D | . | . | . | . | 0.156 | 0 | 5.16 | 0.871 | 0.892 | 0.559 | 0.898 | 14.328 | Deleterious (FATHMM) |
| 1627 | 17 | 43104264 | C | G | Pathogenic/Likely pathogenic, not provided | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43104264 | 43104264 | C | G | intronic | BRCA1 | . | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1628 | 17 | 43104867 | G | A | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43104867 | 43104867 | G | A | splicing | BRCA1 | NM_007297:exon4:c.160+1C>T,NM_007294:exon5:c.301+1C>T,NM_007298:exon4:c.301+1C>T,NM_007299:exon5:c.301+1C>T,NM_007300:exon5:c.301+1C>T | . | . | 17q21.31 | . | rs587782173 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.927 | 25.0 | 0.989 | 0.988 | D | . | . | . | . | 0.164 | 0 | 5.3 | 0.871 | 0.935 | 0.988 | 0.989 | 16.263 | Deleterious (FATHMM) |
| 1629 | 17 | 43104957 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43104957 | 43104957 | G | A | splicing | BRCA1 | NM_007297:exon4:c.72-1C>T,NM_007294:exon5:c.213-1C>T,NM_007298:exon4:c.213-1C>T,NM_007299:exon5:c.213-1C>T,NM_007300:exon5:c.213-1C>T | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.626 | 26.6 | 0.992 | 0.972 | D | . | . | . | . | 0.164 | 0 | 5.3 | 0.871 | 0.935 | 0.977 | 0.998 | 15.802 | Deleterious (FATHMM) |
| 1630 | 17 | 43104958 | A | G | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43104958 | 43104958 | A | G | splicing | BRCA1 | NM_007297:exon4:c.72-2T>C,NM_007294:exon5:c.213-2T>C,NM_007298:exon4:c.213-2T>C,NM_007299:exon5:c.213-2T>C,NM_007300:exon5:c.213-2T>C | . | . | 17q21.31 | . | rs397508940 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.990 | 25.1 | 0.981 | 0.972 | D | . | . | . | . | 0.106 | 0 | 5.3 | 0.991 | 1.061 | 0.973 | 1.000 | 12.729 | Deleterious (FATHMM) |
| 1631 | 17 | 43104967 | T | G | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43104967 | 43104967 | T | G | intronic | BRCA1 | . | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1632 | 17 | 43104968 | A | G | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43104968 | 43104968 | A | G | intronic | BRCA1 | . | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1633 | 17 | 43106455 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106455 | 43106455 | G | T | splicing | BRCA1 | NM_007297:exon3:c.71+1C>A,NM_007294:exon4:c.212+1C>A,NM_007298:exon3:c.212+1C>A,NM_007299:exon4:c.212+1C>A,NM_007300:exon4:c.212+1C>A | . | . | 17q21.31 | . | rs80358042 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.347 | 25.9 | 0.992 | 0.964 | D | . | . | . | . | 0.164 | 0 | 4.64 | 0.871 | 0.791 | 0.969 | 0.998 | 14.711 | Deleterious (FATHMM) |
| 1634 | 17 | 43106455 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106455 | 43106455 | G | A | splicing | BRCA1 | NM_007297:exon3:c.71+1C>T,NM_007294:exon4:c.212+1C>T,NM_007298:exon3:c.212+1C>T,NM_007299:exon4:c.212+1C>T,NM_007300:exon4:c.212+1C>T | . | . | 17q21.31 | . | rs80358042 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.455 | 26.1 | 0.992 | 0.967 | D | . | . | . | . | 0.164 | 0 | 4.64 | 0.871 | 0.791 | 0.969 | 0.998 | 14.711 | Deleterious (FATHMM) |
| 1635 | 17 | 43106456 | G | T | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106456 | 43106456 | G | T | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007297:exon3:c.G71A:p.R24K,BRCA1:NM_007298:exon3:c.G212A:p.R71K,BRCA1:NM_007294:exon4:c.G212A:p.R71K,BRCA1:NM_007299:exon4:c.G212A:p.R71K,BRCA1:NM_007300:exon4:c.G212A:p.R71K | 17q21.31 | . | rs80356913 | 0.026 | D | 0.999 | D | 0.987 | D | 0.000 | D | 1 | D | 2.135 | M | -1.98 | D | -0.1 | N | 0.863 | 4.511 | 24.3 | 0.995 | 0.964 | D | 0.780 | D | 0.843 | D | 0.651 | 0 | 4.64 | 0.871 | 0.791 | 0.986 | 0.999 | 14.711 | Deleterious |
| 1636 | 17 | 43106457 | A | G | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106457 | 43106457 | A | G | exonic | BRCA1 | . | synonymous SNV | BRCA1:NM_007297:exon3:c.A70C:p.R24R,BRCA1:NM_007298:exon3:c.A211C:p.R71R,BRCA1:NM_007294:exon4:c.A211C:p.R71R,BRCA1:NM_007299:exon4:c.A211C:p.R71R,BRCA1:NM_007300:exon4:c.A211C:p.R71R | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1637 | 17 | 43106476 | T | G | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106476 | 43106476 | T | G | exonic | BRCA1 | . | synonymous SNV | BRCA1:NM_007297:exon3:c.T51C:p.C17C,BRCA1:NM_007298:exon3:c.T192C:p.C64C,BRCA1:NM_007294:exon4:c.T192C:p.C64C,BRCA1:NM_007299:exon4:c.T192C:p.C64C,BRCA1:NM_007300:exon4:c.T192C:p.C64C | 17q21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1638 | 17 | 43106477 | G | A | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106477 | 43106477 | G | A | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007297:exon3:c.G50T:p.C17F,BRCA1:NM_007298:exon3:c.G191T:p.C64F,BRCA1:NM_007294:exon4:c.G191T:p.C64F,BRCA1:NM_007299:exon4:c.G191T:p.C64F,BRCA1:NM_007300:exon4:c.G191T:p.C64F | 17q21.31 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.325 | H | -4.01 | D | -1.23 | N | 0.963 | 6.614 | 32 | 0.992 | 0.967 | D | 0.938 | D | 0.993 | D | 0.651 | 0 | 4.64 | 0.871 | 0.791 | 0.999 | 1.000 | 14.711 | Deleterious |
| 1639 | 17 | 43106534 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106534 | 43106534 | G | T | splicing | BRCA1 | NM_007294:exon4:c.135-1C>A,NM_007298:exon3:c.135-1C>A,NM_007299:exon4:c.135-1C>A,NM_007300:exon4:c.135-1C>A | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.100 | 25.3 | 0.991 | 0.930 | D | . | . | . | . | 0.322 | 0 | 4.64 | 0.871 | 0.791 | 1.000 | 1.000 | 13.198 | Deleterious (FATHMM) |
| 1640 | 17 | 43106535 | A | G | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43106535 | 43106535 | A | G | splicing | BRCA1 | NM_007294:exon4:c.135-2T>C,NM_007298:exon3:c.135-2T>C,NM_007299:exon4:c.135-2T>C,NM_007300:exon4:c.135-2T>C | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.566 | 24.4 | 0.983 | 0.882 | D | . | . | . | . | 0.106 | 0 | 4.55 | 0.938 | 0.895 | 0.999 | 0.999 | 10.448 | Deleterious (FATHMM) |
| 1641 | 17 | 43115724 | T | C | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43115724 | 43115724 | T | C | splicing | BRCA1 | NM_007294:exon3:c.134+2A>G,NM_007298:exon2:c.134+2A>G,NM_007299:exon3:c.134+2A>G,NM_007300:exon3:c.134+2A>G | . | . | 17q21.31 | . | rs80358131 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.880 | 24.9 | 0.989 | 0.931 | D | . | . | . | . | 0.322 | 0 | 5.97 | 1.062 | 1.199 | 0.989 | 1.000 | 12.853 | Deleterious (FATHMM) |
| 1642 | 17 | 43115780 | G | A | Pathogenic/Likely pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43115780 | 43115780 | G | A | splicing | BRCA1 | NM_007294:exon3:c.81-1C>T,NM_007298:exon2:c.81-1C>T,NM_007299:exon3:c.81-1C>T,NM_007300:exon3:c.81-1C>T | . | . | 17q21.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.374 | 25.9 | 0.991 | 0.914 | D | . | . | . | . | 0.322 | 0 | 5.97 | 0.871 | 0.935 | 0.953 | 0.959 | 15.939 | Deleterious (FATHMM) |
| 1643 | 17 | 43124094 | G | T | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43124094 | 43124094 | G | T | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007298:exon1:c.G3A:p.M1I,BRCA1:NM_007294:exon2:c.G3A:p.M1I,BRCA1:NM_007299:exon2:c.G3A:p.M1I,BRCA1:NM_007300:exon2:c.G3A:p.M1I | 17q21.31 | . | . | 0.025 | D | 0.993 | D | 0.956 | D | 0.000 | D | 1 | D | . | . | -1.84 | D | -0.46 | N | 0.96 | 5.867 | 27.3 | 0.997 | 0.682 | D | 0.522 | D | 0.710 | D | 0.635 | 0 | 3.83 | 0.871 | -0.039 | 0.995 | 0.931 | 11.102 | Deleterious |
| 1644 | 17 | 43124096 | A | G | Pathogenic | BRCA1 | . | . | . | . | . | . | . | . | . | . | 17 | 43124096 | 43124096 | A | G | exonic | BRCA1 | . | nonsynonymous SNV | BRCA1:NM_007298:exon1:c.A1C:p.M1L,BRCA1:NM_007294:exon2:c.A1C:p.M1L,BRCA1:NM_007299:exon2:c.A1C:p.M1L,BRCA1:NM_007300:exon2:c.A1C:p.M1L | 17q21.31 | . | . | 0.025 | D | 0.984 | D | 0.935 | D | 0.000 | D | 1 | D | . | . | -1.8 | D | -0.34 | N | 0.92 | 5.494 | 26.2 | 0.944 | 0.813 | D | 0.354 | D | 0.654 | D | 0.635 | 0 | 3.83 | 0.991 | 0.724 | 0.990 | 0.901 | 8.925 | Deleterious |
| 1645 | 17 | 44902549 | A | C | Pathogenic | CCDC103 | . | . | . | . | . | . | . | . | . | . | 17 | 44902549 | 44902549 | A | C | exonic | CCDC103 | . | nonsynonymous SNV | CCDC103:NM_001258395:exon4:c.A461C:p.H154P,CCDC103:NM_001258396:exon4:c.A461C:p.H154P,CCDC103:NM_213607:exon4:c.A461C:p.H154P | 17q21.31 | 0.0010 | rs145457535 | 0.082 | T | 0.927 | P | 0.596 | P | 0.139 | U | 1.000 | N | 1.845 | L | 0.45 | T | -2.4 | N | 0.859 | 1.829 | 15.16 | 0.861 | 0.919 | D | -0.827 | T | 0.209 | T | 0.615 | 0 | 5.64 | 1.062 | 1.199 | 0.092 | 0.281 | 14.585 | Tolerated |
| 1646 | 17 | 50167431 | G | A | Pathogenic/Likely pathogenic | SGCA | . | . | . | . | . | . | . | . | . | . | 17 | 50167431 | 50167431 | G | A | exonic | SGCA | . | nonsynonymous SNV | SGCA:NM_000023:exon2:c.G101A:p.R34H,SGCA:NM_001135697:exon2:c.G101A:p.R34H | 17q21.33 | 0.0002 | rs371675217 | 0.126 | T | 1.0 | D | 0.966 | D | 0.001 | D | 1 | D | 1.79 | L | -4.98 | D | -0.8 | N | 0.88 | 3.905 | 23.5 | 0.999 | 0.761 | D | 1.038 | D | 0.943 | D | 0.517 | 0 | 4.47 | 0.917 | 0.953 | 0.475 | 0.883 | 12.980 | Deleterious |
| 1647 | 17 | 50167653 | C | T | Pathogenic | SGCA | . | . | . | . | . | . | . | . | . | . | 17 | 50167653 | 50167653 | C | T | exonic | SGCA | . | nonsynonymous SNV | SGCA:NM_000023:exon3:c.C229T:p.R77C,SGCA:NM_001135697:exon3:c.C229T:p.R77C | 17q21.33 | 0.0005 | rs28933693 | 0.009 | D | 1.0 | D | 0.963 | D | 0.000 | D | 1 | A | 2.085 | M | -5.0 | D | -5.15 | D | 0.881 | 7.958 | 35 | 0.999 | 0.987 | D | 1.110 | D | 0.950 | D | 0.554 | 0 | 4.53 | 0.871 | 0.852 | 0.998 | 0.992 | 14.553 | Deleterious |
| 1648 | 17 | 50167717 | G | A | Pathogenic/Likely pathogenic | SGCA | . | . | . | . | . | . | . | . | . | . | 17 | 50167717 | 50167717 | G | A | exonic | SGCA | . | nonsynonymous SNV | SGCA:NM_000023:exon3:c.G293A:p.R98H,SGCA:NM_001135697:exon3:c.G293A:p.R98H | 17q21.33 | 7.7e-05 | rs137852621 | 0.114 | T | 1.0 | D | 0.998 | D | 0.034 | N | 0.001 | A | 1.79 | L | -4.49 | D | -0.92 | N | 0.715 | 2.750 | 21.1 | 0.999 | 0.115 | N | 1.058 | D | 0.928 | D | 0.554 | 0 | 3.53 | 0.917 | 0.953 | 0.818 | 0.986 | 10.011 | Deleterious |
| 1649 | 17 | 50168005 | T | C | Pathogenic/Likely pathogenic | SGCA | . | . | . | . | . | . | . | . | . | . | 17 | 50168005 | 50168005 | T | C | exonic | SGCA | . | nonsynonymous SNV | SGCA:NM_000023:exon4:c.T371C:p.I124T,SGCA:NM_001135697:exon4:c.T371C:p.I124T | 17q21.33 | . | rs768814872 | 0.014 | D | 0.998 | D | 0.948 | D | 0.019 | N | 0.995 | D | 1.955 | M | -5.08 | D | -2.49 | N | 0.888 | 3.548 | 23.1 | 0.989 | 0.829 | D | 1.052 | D | 0.946 | D | 0.616 | 0 | 3.69 | 0.991 | 0.077 | 0.981 | 0.610 | 7.372 | Deleterious |
| 1650 | 17 | 50169246 | G | A | Pathogenic | SGCA | . | . | . | . | . | . | . | . | . | . | 17 | 50169246 | 50169246 | G | A | exonic | SGCA | . | nonsynonymous SNV | SGCA:NM_000023:exon6:c.G739A:p.V247M | 17q21.33 | 0.0002 | rs143570936 | 0.009 | D | 0.997 | D | 0.959 | D | 0.002 | N | 1 | D | 1.7 | L | -4.6 | D | -0.26 | N | 0.738 | 5.676 | 26.7 | 0.999 | 0.838 | D | 1.044 | D | 0.919 | D | 0.422 | 0 | 3.85 | 0.917 | 1.048 | 0.998 | 1.000 | 8.184 | Deleterious |
| 1651 | 17 | 50170245 | C | T | Pathogenic/Likely pathogenic | SGCA | . | . | . | . | . | . | . | . | . | . | 17 | 50170245 | 50170245 | C | T | exonic | SGCA | . | nonsynonymous SNV | SGCA:NM_000023:exon7:c.C850T:p.R284C | 17q21.33 | 7.7e-05 | rs137852623 | 0.0 | D | 1.0 | D | 0.995 | D | 0.011 | N | 1 | D | 2.25 | M | -5.65 | D | -5.56 | D | 0.931 | 7.740 | 35 | 0.999 | 0.718 | D | 1.079 | D | 0.975 | D | 0.554 | 0 | 5.8 | 0.871 | 0.876 | 0.881 | 0.698 | 14.447 | Deleterious |
| 1652 | 17 | 50191457 | C | T | Pathogenic/Likely pathogenic | COL1A1 | . | . | . | . | . | . | . | . | . | . | 17 | 50191457 | 50191457 | C | T | exonic | COL1A1 | . | nonsynonymous SNV | COL1A1:NM_000088:exon32:c.C2161A:p.Q721K | 17q21.33 | . | . | 0.536 | T | 0.909 | P | 0.749 | P | 0.000 | D | 0.992 | D | 0.19 | N | -3.1 | D | -1.21 | N | 0.552 | 3.255 | 22.8 | 0.965 | 0.821 | D | 0.133 | D | 0.654 | D | 0.732 | 0 | 5.3 | 0.917 | 1.048 | 0.998 | 0.994 | 17.745 | Deleterious |
| 1653 | 17 | 50194032 | G | A | Pathogenic | COL1A1 | . | . | . | . | . | . | . | . | . | . | 17 | 50194032 | 50194032 | G | A | exonic | COL1A1 | . | nonsynonymous SNV | COL1A1:NM_000088:exon25:c.G1678T:p.G560C | 17q21.33 | . | rs67507747 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.26 | H | -5.53 | D | -7.18 | D | 0.999 | 6.269 | 29.0 | 0.994 | 0.970 | D | 1.005 | D | 0.985 | D | 0.707 | 0 | 4.43 | 0.871 | 0.852 | 1.000 | 0.977 | 15.986 | Deleterious |
| 1654 | 17 | 58270865 | A | C | Pathogenic | MPO | . | . | . | . | . | . | . | . | . | . | 17 | 58270865 | 58270865 | A | C | splicing | MPO | NM_000250:exon12:c.2031-2T>G | . | . | 17q22 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.835 | 24.8 | 0.995 | 0.960 | D | . | . | . | . | 0.056 | 0 | 5.42 | 0.991 | 1.061 | 0.900 | 0.997 | 14.657 | Deleterious (FATHMM) |
| 1655 | 17 | 58692740 | C | T | Pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58692740 | 58692740 | C | T | exonic | RAD51C | . | stopgain | RAD51C:NM_002876:exon1:c.C97T:p.Q33X,RAD51C:NM_058216:exon1:c.C97T:p.Q33X | 17q22 | . | rs587782528 | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 10.800 | 36 | 0.996 | 0.849 | D | . | . | . | . | 0.731 | 0 | 4.75 | 0.871 | 0.935 | 0.893 | 0.994 | 15.279 | Deleterious (FATHMM) |
| 1656 | 17 | 58695182 | C | T | Pathogenic, risk factor | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58695182 | 58695182 | C | T | exonic | RAD51C | . | stopgain | RAD51C:NM_002876:exon2:c.C397T:p.Q133X,RAD51C:NM_058216:exon2:c.C397T:p.Q133X | 17q22 | . | rs387907159 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.328 | 37 | 0.998 | 0.906 | D | . | . | . | . | 0.706 | 0 | 4.43 | 0.871 | 0.931 | 1.000 | 1.000 | 13.318 | Deleterious (FATHMM) |
| 1657 | 17 | 58696790 | A | T | Pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58696790 | 58696790 | A | T | exonic | RAD51C | . | stopgain | RAD51C:NM_058216:exon3:c.A502T:p.R168X | 17q22 | . | rs587781490 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.711 | 40 | 0.997 | 0.774 | D | . | . | . | . | 0.706 | 0 | 4.51 | 1.062 | 1.193 | 0.999 | 1.000 | 11.441 | Deleterious (FATHMM) |
| 1658 | 17 | 58703201 | C | T | Pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58703201 | 58703201 | C | T | exonic | RAD51C | . | stopgain | RAD51C:NM_058216:exon4:c.C577T:p.R193X | 17q22 | . | rs200293302 | . | . | . | . | . | . | 0.357 | N | 1 | A | . | . | . | . | . | . | . | 11.582 | 37 | 0.997 | 0.150 | N | . | . | . | . | 0.731 | 0 | 3.8 | -0.032 | 0.024 | 0.690 | 0.116 | 6.891 | Deleterious (DANN) |
| 1659 | 17 | 58709857 | A | G | Pathogenic/Likely pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58709857 | 58709857 | A | G | splicing | RAD51C | NM_058216:exon5:c.706-2A>G | . | . | 17q22 | . | rs587780259 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.801 | 24.8 | 0.980 | 0.938 | D | . | . | . | . | 0.295 | 0 | 6.0 | 1.062 | 1.171 | 0.988 | 0.736 | 15.328 | Deleterious (FATHMM) |
| 1660 | 17 | 58709862 | C | T | Pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58709862 | 58709862 | C | T | exonic | RAD51C | . | stopgain | RAD51C:NM_058216:exon5:c.C709T:p.R237X | 17q22 | . | rs770637624 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.896 | 38 | 0.997 | 0.780 | D | . | . | . | . | 0.706 | 0 | 5.02 | 0.871 | 0.024 | 0.675 | 0.434 | 13.030 | Deleterious (FATHMM) |
| 1661 | 17 | 58724049 | G | A | Pathogenic/Likely pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58724049 | 58724049 | G | A | exonic | RAD51C | . | stopgain | RAD51C:NM_058216:exon7:c.G914A:p.W305X | 17q22 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.047 | 41 | 0.989 | 0.915 | D | . | . | . | . | 0.732 | 0 | 5.11 | 0.917 | 0.143 | 1.000 | 0.998 | 12.287 | Deleterious (FATHMM) |
| 1662 | 17 | 58724090 | C | T | Pathogenic | RAD51C | . | . | . | . | . | . | . | . | . | . | 17 | 58724090 | 58724090 | C | T | exonic | RAD51C | . | stopgain | RAD51C:NM_058216:exon7:c.C955T:p.R319X | 17q22 | . | rs587781287 | . | . | . | . | . | . | 0.823 | N | 1 | A | . | . | . | . | . | . | . | 13.957 | 44 | 0.997 | 0.715 | D | . | . | . | . | 0.732 | 0 | 3.87 | 0.871 | 0.935 | 0.998 | 0.841 | 11.613 | Deleterious (FATHMM) |
| 1663 | 17 | 61685976 | T | G | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61685976 | 61685976 | T | G | exonic | BRIP1 | . | nonsynonymous SNV | BRIP1:NM_032043:exon19:c.T2765C:p.L922S | 17q23.2 | . | . | 0.051 | T | 0.501 | P | 0.116 | B | 0.902 | N | 1 | N | 1.355 | L | -0.95 | T | -0.53 | N | 0.359 | 1.157 | 11.52 | 0.996 | 0.073 | N | -0.863 | T | 0.267 | T | 0.638 | 0 | 4.71 | 1.062 | 1.199 | 0.007 | 0.040 | 8.689 | Tolerated |
| 1664 | 17 | 61716043 | C | G | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61716043 | 61716043 | C | G | exonic | BRIP1 | . | synonymous SNV | BRIP1:NM_032043:exon17:c.C2400C:p.Y800Y | 17q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1665 | 17 | 61780325 | C | A | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61780325 | 61780325 | C | A | exonic | BRIP1 | . | nonsynonymous SNV | BRIP1:NM_032043:exon13:c.C1871T:p.S624L | 17q23.2 | . | rs587781321 | 0.003 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.71 | M | 1.98 | T | -4.48 | D | 0.827 | 7.374 | 34 | 0.999 | 0.995 | D | -0.798 | T | 0.177 | T | 0.706 | 0 | 5.54 | 0.917 | 0.953 | 0.998 | 0.995 | 18.483 | Tolerated |
| 1666 | 17 | 61793698 | G | T | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61793698 | 61793698 | G | T | exonic | BRIP1 | . | nonsynonymous SNV | BRIP1:NM_032043:exon10:c.G1372A:p.E458K | 17q23.2 | . | . | 0.265 | T | 0.991 | D | 0.686 | P | 0.064 | N | 1.000 | D | 1.56 | L | -0.89 | T | -1.3 | N | 0.769 | 5.619 | 26.6 | 0.999 | 0.994 | D | -0.296 | T | 0.407 | T | 0.651 | 0 | 4.71 | 0.871 | 0.892 | 0.997 | 0.994 | 16.398 | Tolerated |
| 1667 | 17 | 61799125 | C | T | Pathogenic/Likely pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61799125 | 61799125 | C | T | exonic | BRIP1 | . | synonymous SNV | BRIP1:NM_032043:exon9:c.C1315A:p.R439R | 17q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1668 | 17 | 61801327 | C | T | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61801327 | 61801327 | C | T | exonic | BRIP1 | . | synonymous SNV | BRIP1:NM_032043:exon8:c.C1066A:p.R356R | 17q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1669 | 17 | 61847100 | G | A | Pathogenic/Likely pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61847100 | 61847100 | G | A | splicing | BRIP1 | NM_032043:exon6:c.627+1C>T | . | . | 17q23.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.165 | 23.8 | 0.984 | 0.952 | D | . | . | . | . | 0.106 | 0 | 5.26 | 0.871 | 0.935 | 0.988 | 0.999 | 15.966 | Deleterious (FATHMM) |
| 1670 | 17 | 61849152 | C | T | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61849152 | 61849152 | C | T | exonic | BRIP1 | . | synonymous SNV | BRIP1:NM_032043:exon5:c.C484A:p.R162R | 17q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1671 | 17 | 61849173 | C | T | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61849173 | 61849173 | C | T | exonic | BRIP1 | . | nonsynonymous SNV | BRIP1:NM_032043:exon5:c.C463A:p.Q155K | 17q23.2 | . | . | 0.097 | T | 0.997 | D | 0.98 | D | 0.000 | D | 0.994 | D | 1.87 | L | 0.73 | T | -1.28 | N | 0.758 | 3.051 | 22.4 | 0.994 | 0.861 | D | -0.696 | T | 0.269 | T | 0.707 | 0 | 5.95 | 0.917 | 1.048 | 1.000 | 1.000 | 17.126 | Tolerated |
| 1672 | 17 | 61859868 | G | T | Pathogenic | BRIP1 | . | . | . | . | . | . | . | . | . | . | 17 | 61859868 | 61859868 | G | T | exonic | BRIP1 | . | nonsynonymous SNV | BRIP1:NM_032043:exon3:c.G133A:p.E45K | 17q23.2 | . | rs587781292 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1.000 | D | 3.225 | M | 0.5 | T | -3.23 | D | 0.971 | 7.221 | 34 | 0.993 | 0.989 | D | 0.010 | D | 0.445 | T | 0.707 | 0 | 5.56 | 0.871 | 0.892 | 1.000 | 1.000 | 18.515 | Tolerated |
| 1673 | 17 | 63483494 | C | T | Pathogenic/Likely pathogenic | ACE | . | . | . | . | . | . | . | . | . | . | 17 | 63483494 | 63483494 | C | T | exonic | ACE | . | stopgain | ACE:NM_000789:exon10:c.C1522T:p.R508X | 17q23.3 | 7.7e-05 | rs367797185 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.189 | 36 | 0.998 | 0.779 | D | . | . | . | . | 0.707 | 0 | 3.91 | 0.871 | 0.935 | 0.994 | 0.508 | 8.759 | Deleterious (FATHMM) |
| 1674 | 17 | 63941940 | C | T | Pathogenic | SCN4A | . | . | . | . | . | . | . | . | . | . | 17 | 63941940 | 63941940 | C | T | exonic | SCN4A | . | nonsynonymous SNV | SCN4A:NM_000334:exon24:c.C4342A:p.R1448S | 17q23.3 | . | . | 0.0 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1.000 | D | 2.39 | M | -4.54 | D | -5.56 | D | 0.973 | 5.676 | 26.7 | 0.998 | 0.850 | D | 1.045 | D | 0.940 | D | 0.646 | 0 | 3.71 | 0.917 | 0.953 | 0.999 | 0.883 | 9.189 | Deleterious |
| 1675 | 17 | 70175691 | C | T | Pathogenic | KCNJ2 | . | . | . | . | . | . | . | . | . | . | 17 | 70175691 | 70175691 | C | T | exonic | KCNJ2 | . | nonsynonymous SNV | KCNJ2:NM_000891:exon2:c.C652T:p.R218W | 17q24.3 | . | rs104894578 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | A | 3.99 | H | -4.23 | D | -7.72 | D | 0.991 | 6.256 | 28.9 | 0.999 | 0.900 | D | 1.077 | D | 0.966 | D | 0.707 | 0 | 4.73 | 0.871 | 0.935 | 0.996 | 0.919 | 14.938 | Deleterious |
| 1676 | 17 | 70175692 | G | A | Pathogenic | KCNJ2 | . | . | . | . | . | . | . | . | . | . | 17 | 70175692 | 70175692 | G | A | exonic | KCNJ2 | . | nonsynonymous SNV | KCNJ2:NM_000891:exon2:c.G653A:p.R218Q | 17q24.3 | . | rs199473384 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.895 | M | -4.17 | D | -3.83 | D | 0.969 | 6.352 | 29.4 | 0.999 | 0.992 | D | 1.065 | D | 0.947 | D | 0.707 | 0 | 5.76 | 0.917 | 1.048 | 0.995 | 0.910 | 19.966 | Deleterious |
| 1677 | 17 | 75522000 | G | T | Pathogenic | TSEN54 | . | . | . | . | . | . | . | . | . | . | 17 | 75522000 | 75522000 | G | T | exonic | TSEN54 | . | nonsynonymous SNV | TSEN54:NM_207346:exon8:c.G919T:p.A307S | 17q25.1 | 0.0009 | rs113994152 | 0.024 | D | 0.997 | D | 0.876 | P | 0.000 | D | 0.988 | A | 1.995 | M | -0.26 | T | -0.76 | N | 0.729 | 5.311 | 25.8 | 0.975 | 0.967 | D | -0.205 | T | 0.425 | T | 0.706 | 0 | 5.14 | 0.917 | 0.940 | 0.944 | 0.997 | 18.603 | Tolerated |
| 1678 | 17 | 75836338 | G | A | Pathogenic/Likely pathogenic | UNC13D | . | . | . | . | . | . | . | . | . | . | 17 | 75836338 | 75836338 | G | A | splicing | UNC13D | NM_199242:exon15:c.1389+1C>T | . | . | 17q25.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.885 | 23.5 | 0.989 | 0.993 | D | . | . | . | . | 0.257 | 0 | 4.34 | 0.871 | 0.852 | 0.048 | 0.059 | 17.021 | Deleterious (FATHMM) |
| 1679 | 17 | 75840506 | G | T | Pathogenic | UNC13D | . | . | . | . | . | . | . | . | . | . | 17 | 75840506 | 75840506 | G | T | splicing | UNC13D | NM_199242:exon9:c.753+1C>A | . | . | 17q25.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.844 | 24.8 | 0.990 | 0.973 | D | . | . | . | . | 0.284 | 0 | 3.02 | 0.871 | 0.843 | 0.913 | 0.936 | 13.483 | Deleterious (FATHMM) |
| 1680 | 17 | 80104542 | T | G | Pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80104542 | 80104542 | T | G | intronic | GAA | . | . | . | 17q25.3 | 0.0042 | rs386834236 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1681 | 17 | 80104893 | T | G | Pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80104893 | 80104893 | T | G | exonic | GAA | . | nonsynonymous SNV | GAA:NM_000152:exon2:c.T307G:p.C103G,GAA:NM_001079804:exon2:c.T307G:p.C103G,GAA:NM_001079803:exon3:c.T307G:p.C103G | 17q25.3 | . | rs398123174 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.755 | H | -3.46 | D | -10.77 | D | 0.972 | 4.266 | 23.9 | 0.979 | 0.978 | D | 1.095 | D | 0.946 | D | 0.696 | 0 | 4.94 | 0.991 | 0.964 | 0.997 | 0.394 | 13.567 | Deleterious |
| 1682 | 17 | 80105857 | G | A | Pathogenic/Likely pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80105857 | 80105857 | G | A | exonic | GAA | . | nonsynonymous SNV | GAA:NM_000152:exon3:c.G655A:p.G219R,GAA:NM_001079804:exon3:c.G655A:p.G219R,GAA:NM_001079803:exon4:c.G655A:p.G219R | 17q25.3 | 7.7e-05 | rs370950728 | 0.026 | D | 1.0 | D | 0.984 | D | 0.000 | D | 1.000 | D | 2.82 | M | -1.84 | D | -6.08 | D | 0.949 | 6.030 | 28.0 | 0.999 | 0.986 | D | 0.720 | D | 0.785 | D | 0.696 | 0 | 5.15 | 0.917 | 0.953 | 0.195 | 0.700 | 18.208 | Deleterious |
| 1683 | 17 | 80110837 | G | A | Pathogenic/Likely pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80110837 | 80110837 | G | A | exonic | GAA | . | stopgain | GAA:NM_000152:exon10:c.G1548A:p.W516X,GAA:NM_001079804:exon10:c.G1548A:p.W516X,GAA:NM_001079803:exon11:c.G1548A:p.W516X | 17q25.3 | 7.7e-05 | rs140826989 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.587 | 37 | 0.997 | 0.991 | D | . | . | . | . | 0.706 | 0 | 4.4 | 0.917 | 1.045 | 0.994 | 0.952 | 13.582 | Deleterious (FATHMM) |
| 1684 | 17 | 80112001 | T | C | Pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80112001 | 80112001 | T | C | exonic | GAA | . | nonsynonymous SNV | GAA:NM_000152:exon12:c.T1655C:p.L552P,GAA:NM_001079804:exon12:c.T1655C:p.L552P,GAA:NM_001079803:exon13:c.T1655C:p.L552P | 17q25.3 | . | rs779556619 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | D | 3.78 | H | -3.03 | D | -6.43 | D | 0.962 | 5.348 | 25.9 | 0.999 | 0.967 | D | 1.048 | D | 0.908 | D | 0.713 | 0 | 4.65 | 0.991 | 0.964 | 0.941 | 0.420 | 13.720 | Deleterious |
| 1685 | 17 | 80112966 | G | A | Pathogenic/Likely pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80112966 | 80112966 | G | A | exonic | GAA | . | nonsynonymous SNV | GAA:NM_000152:exon14:c.G1979A:p.R660H,GAA:NM_001079804:exon14:c.G1979A:p.R660H,GAA:NM_001079803:exon15:c.G1979A:p.R660H | 17q25.3 | 7.7e-05 | rs374143224 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 4.065 | H | -4.37 | D | -4.91 | D | 0.965 | 7.584 | 34 | 1.000 | 0.992 | D | 1.089 | D | 0.968 | D | 0.742 | 0 | 4.69 | 0.917 | 0.949 | 1.000 | 1.000 | 17.227 | Deleterious |
| 1686 | 17 | 80113001 | C | T | Pathogenic/Likely pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80113001 | 80113001 | C | T | exonic | GAA | . | nonsynonymous SNV | GAA:NM_000152:exon14:c.C2014T:p.R672W,GAA:NM_001079804:exon14:c.C2014T:p.R672W,GAA:NM_001079803:exon15:c.C2014T:p.R672W | 17q25.3 | . | rs757111744 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 4.26 | H | -3.69 | D | -7.86 | D | 0.94 | 7.336 | 34 | 0.999 | 0.850 | D | 0.993 | D | 0.945 | D | 0.706 | 0 | 2.45 | 0.871 | 0.848 | 1.000 | 0.999 | 8.356 | Deleterious |
| 1687 | 17 | 80117016 | G | C | Pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80117016 | 80117016 | G | C | exonic | GAA | . | nonsynonymous SNV | GAA:NM_000152:exon16:c.G2238C:p.W746C,GAA:NM_001079804:exon16:c.G2238C:p.W746C,GAA:NM_001079803:exon17:c.G2238C:p.W746C | 17q25.3 | 0.0003 | rs1800312 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.56 | M | -2.92 | D | -12.54 | D | 0.973 | 6.872 | 33 | 0.992 | 0.994 | D | 0.957 | D | 0.876 | D | 0.718 | 0 | 5.1 | 0.917 | 0.902 | 0.996 | 0.991 | 18.084 | Deleterious |
| 1688 | 17 | 80118271 | C | T | Pathogenic | GAA | . | . | . | . | . | . | . | . | . | . | 17 | 80118271 | 80118271 | C | T | exonic | GAA | . | stopgain | GAA:NM_000152:exon18:c.C2560T:p.R854X,GAA:NM_001079804:exon18:c.C2560T:p.R854X,GAA:NM_001079803:exon19:c.C2560T:p.R854X | 17q25.3 | 0.0008 | rs121907943 | . | . | . | . | . | . | 0.700 | N | 1 | A | . | . | . | . | . | . | . | 11.778 | 38 | 0.993 | 0.108 | N | . | . | . | . | 0.706 | 0 | 3.52 | -1.490 | 0.021 | 0.010 | 0.021 | 10.955 | Deleterious (DANN) |
| 1689 | 17 | 80212128 | T | C | Pathogenic | SGSH | . | . | . | . | . | . | . | . | . | . | 17 | 80212128 | 80212128 | T | C | exonic | SGSH | . | nonsynonymous SNV | SGSH:NM_000199:exon7:c.T892G:p.S298A | 17q25.3 | . | . | 0.085 | T | 0.998 | D | 0.977 | D | 0.000 | D | 1 | D | 1.58 | L | -3.94 | D | -2.33 | N | 0.622 | 3.370 | 22.9 | 0.995 | 0.997 | D | 0.692 | D | 0.859 | D | 0.707 | 0 | 4.62 | 1.062 | 1.088 | 0.403 | 0.354 | 13.661 | Deleterious |
| 1690 | 17 | 80213815 | G | A | Pathogenic | SGSH | . | . | . | . | . | . | . | . | . | . | 17 | 80213815 | 80213815 | G | A | exonic | SGSH | . | nonsynonymous SNV | SGSH:NM_000199:exon6:c.G734T:p.R245L | 17q25.3 | . | . | 0.0 | D | 0.994 | D | 0.978 | D | 0.000 | D | 1 | D | 2.09 | M | -5.02 | D | -6.2 | D | 0.972 | 7.429 | 34 | 0.958 | 0.995 | D | 1.038 | D | 0.948 | D | 0.707 | 0 | 4.47 | 0.871 | 0.852 | 0.993 | 0.985 | 15.085 | Deleterious |
| 1691 | 17 | 80217061 | C | T | Pathogenic | SGSH | . | . | . | . | . | . | . | . | . | . | 17 | 80217061 | 80217061 | C | T | exonic | SGSH | . | nonsynonymous SNV | SGSH:NM_000199:exon2:c.C220A:p.R74S | 17q25.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.465 | H | -4.76 | D | -5.7 | D | 0.859 | 6.795 | 32 | 0.998 | 0.942 | D | 1.041 | D | 0.977 | D | 0.651 | 0 | 3.74 | 0.866 | 0.953 | 0.989 | 0.971 | 11.034 | Deleterious |
| 1692 | 17 | 80217084 | C | G | Pathogenic | SGSH | . | . | . | . | . | . | . | . | . | . | 17 | 80217084 | 80217084 | C | G | exonic | SGSH | . | synonymous SNV | SGSH:NM_000199:exon2:c.C197C:p.S66S | 17q25.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1693 | 18 | 23533495 | C | A | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23533495 | 23533495 | C | A | exonic | NPC1 | . | nonsynonymous SNV | NPC1:NM_000271:exon24:c.C3614T:p.T1205I | 18q11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.76 | H | -3.31 | D | -5.43 | D | 0.98 | 6.532 | 31 | 0.999 | 0.980 | D | 1.080 | D | 0.934 | D | 0.707 | 0 | 5.54 | 0.830 | 0.949 | 0.999 | 0.996 | 19.485 | Deleterious |
| 1694 | 18 | 23536736 | T | C | Pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23536736 | 23536736 | T | C | exonic | NPC1 | . | nonsynonymous SNV | NPC1:NM_000271:exon21:c.T3182G:p.I1061R | 18q11.2 | . | . | 0.0 | D | 0.934 | P | 0.948 | D | 0.175 | N | 1.000 | D | 2.55 | M | -2.48 | D | -5.85 | D | 0.718 | 5.163 | 25.5 | 0.988 | 0.994 | D | 0.789 | D | 0.828 | D | 0.707 | 0 | 6.04 | 0.960 | 1.199 | 0.553 | 0.484 | 16.576 | Deleterious |
| 1695 | 18 | 23538564 | C | G | Pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23538564 | 23538564 | C | G | exonic | NPC1 | . | synonymous SNV | NPC1:NM_000271:exon20:c.C3019C:p.P1007P | 18q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1696 | 18 | 23538609 | G | C | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23538609 | 23538609 | G | C | exonic | NPC1 | . | synonymous SNV | NPC1:NM_000271:exon20:c.G2974G:p.G992G | 18q11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1697 | 18 | 23539405 | C | T | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23539405 | 23539405 | C | T | exonic | NPC1 | . | stopgain | NPC1:NM_000271:exon19:c.C2861A:p.S954X | 18q11.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.406 | 42 | 0.994 | 0.981 | D | . | . | . | . | 0.722 | 0 | 5.25 | 0.830 | 1.048 | 0.098 | 0.048 | 19.210 | Deleterious (FATHMM) |
| 1698 | 18 | 23539418 | G | A | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23539418 | 23539418 | G | A | exonic | NPC1 | . | nonsynonymous SNV | NPC1:NM_000271:exon19:c.G2848T:p.V950L | 18q11.2 | . | . | 0.19 | T | 0.0 | B | 0.001 | B | 0.002 | N | 1.000 | D | 0.04 | N | -2.41 | D | -0.99 | N | 0.486 | 2.270 | 17.97 | 0.964 | 0.884 | D | -0.717 | T | 0.328 | T | 0.722 | 0 | 0.33 | -0.024 | 0.935 | 0.540 | 0.726 | 10.369 | Tolerated |
| 1699 | 18 | 23551653 | C | T | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23551653 | 23551653 | C | T | exonic | NPC1 | . | nonsynonymous SNV | NPC1:NM_000271:exon10:c.C1628A:p.P543Q | 18q11.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.465 | M | -3.76 | D | -7.69 | D | 0.898 | 6.294 | 29.1 | 0.993 | 0.998 | D | 1.086 | D | 0.949 | D | 0.707 | 0 | 5.67 | 0.830 | 1.048 | 0.993 | 0.964 | 19.770 | Deleterious |
| 1700 | 18 | 23554758 | G | A | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23554758 | 23554758 | G | A | exonic | NPC1 | . | nonsynonymous SNV | NPC1:NM_000271:exon9:c.G1553T:p.R518L | 18q11.2 | . | . | 0.104 | T | 0.618 | P | 0.219 | B | 0.000 | D | 1 | D | 2.34 | M | -2.36 | D | -3.36 | D | 0.872 | 5.708 | 26.8 | 0.996 | 0.981 | D | 0.480 | D | 0.737 | D | 0.707 | 0 | 4.58 | 0.791 | 0.932 | 0.911 | 0.995 | 12.248 | Deleterious |
| 1701 | 18 | 23556358 | G | A | Pathogenic/Likely pathogenic | NPC1 | . | . | . | . | . | . | . | . | . | . | 18 | 23556358 | 23556358 | G | A | exonic | NPC1 | . | nonsynonymous SNV | NPC1:NM_000271:exon8:c.G1211T:p.R404L | 18q11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | N | 1 | D | 3.51 | H | -2.37 | D | -6.97 | D | 0.678 | 7.647 | 35 | 0.999 | 0.995 | D | 0.995 | D | 0.872 | D | 0.719 | 0 | 4.79 | 0.791 | 0.935 | 0.973 | 0.958 | 16.305 | Deleterious |
| 1702 | 18 | 31086672 | C | G | Pathogenic/Likely pathogenic | DSC2 | . | . | . | . | . | . | . | . | . | . | 18 | 31086672 | 31086672 | C | G | exonic | DSC2 | . | synonymous SNV | DSC2:NM_004949:exon7:c.C846C:p.Y282Y,DSC2:NM_024422:exon7:c.C846C:p.Y282Y | 18q12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1703 | 18 | 31087781 | T | A | Pathogenic/Likely pathogenic | DSC2 | . | . | . | . | . | . | . | . | . | . | 18 | 31087781 | 31087781 | T | A | exonic | DSC2 | . | synonymous SNV | DSC2:NM_004949:exon6:c.T663T:p.Y221Y,DSC2:NM_024422:exon6:c.T663T:p.Y221Y | 18q12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1704 | 18 | 31087815 | A | G | Pathogenic/Likely pathogenic | DSC2 | . | . | . | . | . | . | . | . | . | . | 18 | 31087815 | 31087815 | A | G | splicing | DSC2 | NM_004949:exon6:c.631-2T>C,NM_024422:exon6:c.631-2T>C | . | . | 18q12.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.065 | 22.4 | 0.975 | 0.988 | D | . | . | . | . | 0.099 | 0 | 4.9 | 0.991 | 1.061 | 0.840 | 0.023 | 13.648 | Deleterious (FATHMM) |
| 1705 | 18 | 31519858 | G | A | Pathogenic/Likely pathogenic | DSG2 | . | . | . | . | . | . | . | . | . | . | 18 | 31519858 | 31519858 | G | A | exonic | DSG2 | . | nonsynonymous SNV | DSG2:NM_001943:exon3:c.G137A:p.R46Q | 18q12.1 | . | rs121913008 | 0.0 | D | 1.0 | D | 0.998 | D | 0.003 | U | 0.101 | A | 3.505 | H | -0.68 | T | -3.53 | D | 0.89 | 6.317 | 29.2 | 0.971 | 0.952 | D | 0.278 | D | 0.730 | D | 0.707 | 0 | 5.21 | 0.917 | 1.048 | 0.680 | 0.291 | 17.299 | Deleterious |
| 1706 | 18 | 31519867 | G | A | Pathogenic/Likely pathogenic | DSG2 | . | . | . | . | . | . | . | . | . | . | 18 | 31519867 | 31519867 | G | A | exonic | DSG2 | . | nonsynonymous SNV | DSG2:NM_001943:exon3:c.G146A:p.R49H | 18q12.1 | . | rs121913006 | 0.0 | D | 1.0 | D | 0.997 | D | 0.003 | U | 0.971 | A | 3.495 | M | -0.87 | T | -4.66 | D | 0.921 | 6.694 | 32 | 0.975 | 0.969 | D | 0.777 | D | 0.758 | D | 0.707 | 0 | 5.21 | 0.917 | 1.048 | 0.683 | 0.249 | 17.299 | Deleterious |
| 1707 | 18 | 31521245 | T | C | Pathogenic/Likely pathogenic | DSG2 | . | . | . | . | . | . | . | . | . | . | 18 | 31521245 | 31521245 | T | C | splicing | DSG2 | NM_001943:exon5:c.523+2T>C | . | . | 18q12.1 | . | rs397516709 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.390 | 23.0 | 0.986 | 0.988 | D | . | . | . | . | 0.099 | 0 | 5.62 | 0.991 | 1.061 | 0.815 | 0.837 | 15.816 | Deleterious (FATHMM) |
| 1708 | 18 | 31541191 | A | G | Pathogenic/Likely pathogenic | DSG2 | . | . | . | . | . | . | . | . | . | . | 18 | 31541191 | 31541191 | A | G | splicing | DSG2 | NM_001943:exon13:c.1880-2A>G | . | . | 18q12.1 | . | rs397514038 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.231 | 22.8 | 0.986 | 0.988 | D | . | . | . | . | 0.295 | 0 | 5.77 | 1.062 | 1.199 | 0.813 | 0.037 | 15.562 | Deleterious (FATHMM) |
| 1709 | 18 | 31592974 | G | A | Pathogenic | TTR | . | . | . | . | . | . | . | . | . | . | 18 | 31592974 | 31592974 | G | A | exonic | TTR | . | nonsynonymous SNV | TTR:NM_000371:exon2:c.G148A:p.V50M | 18q12.1 | . | rs28933979 | 0.025 | D | 0.999 | D | 0.969 | D | 0.000 | D | 1.000 | D | 3.305 | M | -4.42 | D | -1.57 | N | 0.919 | 5.083 | 25.3 | 0.999 | 0.738 | D | 1.085 | D | 0.961 | D | 0.447 | 0 | 5.71 | 0.917 | 1.048 | 0.856 | 0.395 | 19.820 | Deleterious |
| 1710 | 18 | 31595129 | T | A | Pathogenic/Likely pathogenic | TTR | . | . | . | . | . | . | . | . | . | . | 18 | 31595129 | 31595129 | T | A | exonic | TTR | . | nonsynonymous SNV | TTR:NM_000371:exon3:c.T210A:p.S70R | 18q12.1 | . | rs121918076 | 0.009 | D | 0.946 | P | 0.667 | P | 0.002 | N | 1.000 | N | 1.87 | L | -3.72 | D | -1.91 | N | 0.889 | 4.615 | 24.5 | 0.995 | 0.114 | N | 0.158 | D | 0.777 | D | 0.554 | 0 | -1.24 | -1.070 | -0.416 | 0.545 | 0.805 | 0.987 | Deleterious |
| 1711 | 18 | 31595157 | A | G | Pathogenic/Likely pathogenic | TTR | . | . | . | . | . | . | . | . | . | . | 18 | 31595157 | 31595157 | A | G | exonic | TTR | . | nonsynonymous SNV | TTR:NM_000371:exon3:c.A238G:p.T80A | 18q12.1 | . | rs121918070 | 0.062 | T | 0.148 | B | 0.061 | B | 0.000 | D | 1 | A | 1.76 | L | -3.8 | D | -2.83 | D | 0.898 | 2.355 | 18.53 | 0.984 | 0.698 | D | 0.687 | D | 0.797 | D | 0.554 | 0 | 5.54 | 1.062 | 1.088 | 0.973 | 0.424 | 15.632 | Deleterious |
| 1712 | 18 | 31598655 | G | A | Pathogenic | TTR | . | . | . | . | . | . | . | . | . | . | 18 | 31598655 | 31598655 | G | A | exonic | TTR | . | nonsynonymous SNV | TTR:NM_000371:exon4:c.G424A:p.V142I | 18q12.1 | 0.0059 | rs76992529 | 0.023 | D | 1.0 | D | 0.99 | D | 0.000 | N | 1.000 | A | 2.93 | M | -3.78 | D | -0.48 | N | 0.591 | 2.984 | 22.2 | 0.998 | 0.916 | D | 0.758 | D | 0.863 | D | 0.487 | 0 | 4.31 | 0.917 | -0.273 | 0.740 | 0.003 | 12.758 | Deleterious |
| 1713 | 18 | 33743197 | C | T | Pathogenic/Likely pathogenic | ASXL3 | . | . | . | . | . | . | . | . | . | . | 18 | 33743197 | 33743197 | C | T | exonic | ASXL3 | . | stopgain | ASXL3:NM_030632:exon12:c.C3349T:p.R1117X | 18q12.1 | . | rs868044680 | . | . | . | . | . | . | 0.057 | N | 1 | D | . | . | . | . | . | . | . | 11.366 | 37 | 0.998 | 0.573 | D | . | . | . | . | 0.549 | 0 | 1.52 | -0.662 | 0.018 | 0.933 | 0.985 | 15.691 | Deleterious (FATHMM) |
| 1714 | 18 | 44951952 | T | C | Pathogenic | SETBP1 | . | . | . | . | . | . | . | . | . | . | 18 | 44951952 | 44951952 | T | C | exonic | SETBP1 | . | nonsynonymous SNV | SETBP1:NM_015559:exon4:c.T2612C:p.I871T | 18q12.3 | . | rs267607038 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1.000 | D | 0.975 | L | -2.71 | D | -4.75 | D | 0.981 | 4.522 | 24.3 | 0.997 | 0.987 | D | 0.703 | D | 0.772 | D | 0.554 | 0 | 6.17 | 0.991 | 1.061 | 0.998 | 0.988 | 16.822 | Deleterious |
| 1715 | 18 | 46529227 | C | T | Pathogenic/Likely pathogenic | LOXHD1 | . | . | . | . | . | . | . | . | . | . | 18 | 46529227 | 46529227 | C | T | exonic | LOXHD1 | . | synonymous SNV | LOXHD1:NM_001308013:exon9:c.C859A:p.R287R,LOXHD1:NM_001145472:exon11:c.C1147A:p.R383R,LOXHD1:NM_144612:exon29:c.C4480A:p.R1494R | 18q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1716 | 18 | 51065548 | C | T | Pathogenic | SMAD4 | . | . | . | . | . | . | . | . | . | . | 18 | 51065548 | 51065548 | C | T | exonic | SMAD4 | . | nonsynonymous SNV | SMAD4:NM_005359:exon9:c.C1081T:p.R361C | 18q21.2 | . | rs80338963 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.485 | M | -4.76 | D | -7.82 | D | 0.997 | 7.642 | 35 | 0.999 | 0.957 | D | 1.086 | D | 0.975 | D | 0.707 | 0 | 5.86 | 0.871 | 0.852 | 1.000 | 1.000 | 18.965 | Deleterious |
| 1717 | 18 | 55228993 | G | A | Pathogenic | TCF4 | . | . | . | . | . | . | . | . | . | . | 18 | 55228993 | 55228993 | G | A | exonic | TCF4 | . | nonsynonymous SNV | TCF4:NM_001243234:exon11:c.G1253T:p.R418L,TCF4:NM_001243235:exon11:c.G1241T:p.R414L,TCF4:NM_001243236:exon11:c.G1241T:p.R414L,TCF4:NM_001243232:exon14:c.G1520T:p.R507L,TCF4:NM_001243233:exon14:c.G1331T:p.R444L,TCF4:NM_001306208:exon14:c.G1508T:p.R503L,TCF4:NM_001243231:exon16:c.G1595T:p.R532L,TCF4:NM_001243227:exon17:c.G1661T:p.R554L,TCF4:NM_001243230:exon17:c.G1712T:p.R571L,TCF4:NM_001306207:exon17:c.G1649T:p.R550L,TCF4:NM_001083962:exon18:c.G1733T:p.R578L,TCF4:NM_001243228:exon18:c.G1751T:p.R584L,TCF4:NM_003199:exon18:c.G1721T:p.R574L,TCF4:NM_001243226:exon19:c.G2039T:p.R680L | 18q21.2 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.375 | M | -5.35 | D | -6.53 | D | 0.991 | 8.349 | 35 | 0.999 | 0.974 | D | 1.069 | D | 0.982 | D | 0.672 | 0 | 5.89 | 0.871 | 0.932 | 0.999 | 0.976 | 19.028 | Deleterious |
| 1718 | 18 | 55254694 | C | T | Pathogenic | TCF4 | . | . | . | . | . | . | . | . | . | . | 18 | 55254694 | 55254694 | C | T | exonic | TCF4 | . | synonymous SNV | TCF4:NM_001243234:exon8:c.C673A:p.R225R,TCF4:NM_001243235:exon8:c.C673A:p.R225R,TCF4:NM_001243236:exon8:c.C673A:p.R225R,TCF4:NM_001243232:exon11:c.C940A:p.R314R,TCF4:NM_001243233:exon11:c.C763A:p.R255R,TCF4:NM_001306208:exon11:c.C940A:p.R314R,TCF4:NM_001243231:exon13:c.C1027A:p.R343R,TCF4:NM_001243227:exon14:c.C1081A:p.R361R,TCF4:NM_001243230:exon14:c.C1144A:p.R382R,TCF4:NM_001306207:exon14:c.C1081A:p.R361R,TCF4:NM_001083962:exon15:c.C1153A:p.R385R,TCF4:NM_001243228:exon15:c.C1171A:p.R391R,TCF4:NM_003199:exon15:c.C1153A:p.R385R,TCF4:NM_001243226:exon16:c.C1459A:p.R487R | 18q21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1719 | 19 | 1220488 | G | A | Pathogenic/Likely pathogenic | STK11 | . | . | . | . | . | . | . | . | . | . | 19 | 1220488 | 1220488 | G | A | exonic | STK11 | . | nonsynonymous SNV | STK11:NM_000455:exon4:c.G580A:p.D194N | 19p13.3 | . | rs121913315 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.165 | H | -3.14 | D | -5.0 | D | 0.387 | 6.365 | 29.4 | 0.999 | 0.973 | D | 1.085 | D | 0.929 | D | 0.713 | 0 | 5.56 | 0.917 | 1.048 | 0.948 | 0.983 | 18.579 | Deleterious |
| 1720 | 19 | 1221996 | C | T | Pathogenic | STK11 | . | . | . | . | . | . | . | . | . | . | 19 | 1221996 | 1221996 | C | T | exonic | STK11 | . | nonsynonymous SNV | STK11:NM_000455:exon7:c.C910T:p.R304W | 19p13.3 | . | rs786201090 | 0.001 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 1.6 | L | -1.67 | D | -5.59 | D | 0.922 | 7.381 | 34 | 0.999 | 0.832 | D | 0.107 | D | 0.596 | D | 0.713 | 0 | -2.25 | -0.639 | -0.131 | 0.141 | 0.988 | 14.716 | Deleterious |
| 1721 | 19 | 1398964 | G | A | Pathogenic | GAMT | . | . | . | . | . | . | . | . | . | . | 19 | 1398964 | 1398964 | G | A | exonic | GAMT | . | nonsynonymous SNV | GAMT:NM_000156:exon5:c.G522T:p.W174C,GAMT:NM_138924:exon5:c.G522T:p.W174C | 19p13.3 | . | . | 0.011 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1 | D | 2.19 | M | -2.48 | D | -3.62 | D | 0.877 | 7.140 | 34 | 0.994 | 0.980 | D | 0.581 | D | 0.776 | D | 0.635 | 0 | 3.96 | 0.871 | 0.783 | 1.000 | 1.000 | 13.56 | Deleterious |
| 1722 | 19 | 1399793 | G | A | Pathogenic | GAMT | . | . | . | . | . | . | . | . | . | . | 19 | 1399793 | 1399793 | G | A | exonic | GAMT | . | nonsynonymous SNV | GAMT:NM_000156:exon2:c.G327T:p.K109N,GAMT:NM_138924:exon2:c.G327T:p.K109N | 19p13.3 | . | . | 0.306 | T | 0.3 | B | 0.14 | B | 0.000 | D | 1 | D | 0.335 | N | -2.16 | D | -1.8 | N | 0.157 | 2.651 | 20.5 | 0.992 | 0.981 | D | -0.400 | T | 0.398 | T | 0.706 | 0 | 4.18 | 0.871 | 0.859 | 0.807 | 0.089 | 14.032 | Tolerated |
| 1723 | 19 | 4101105 | G | A | Pathogenic/Likely pathogenic | MAP2K2 | . | . | . | . | . | . | . | . | . | . | 19 | 4101105 | 4101105 | G | A | exonic | MAP2K2 | . | stopgain | MAP2K2:NM_030662:exon6:c.G619T:p.E207X | 19p13.3 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.670 | 38 | 0.997 | 0.985 | D | . | . | . | . | 0.707 | 0 | 4.22 | 0.871 | 0.848 | 0.886 | 0.930 | 15.189 | Deleterious (FATHMM) |
| 1724 | 19 | 4110559 | T | C | Pathogenic/Likely pathogenic | MAP2K2 | . | . | . | . | . | . | . | . | . | . | 19 | 4110559 | 4110559 | T | C | exonic | MAP2K2 | . | nonsynonymous SNV | MAP2K2:NM_030662:exon3:c.T400G:p.Y134D | 19p13.3 | . | . | 0.0 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.21 | M | -3.22 | D | -8.25 | D | 0.992 | 6.088 | 28.2 | 0.994 | 0.965 | D | 1.038 | D | 0.908 | D | 0.722 | 0 | 5.3 | 1.003 | 1.083 | 0.999 | 1.000 | 14.056 | Deleterious |
| 1725 | 19 | 4117541 | A | G | Pathogenic/Likely pathogenic | MAP2K2 | . | . | . | . | . | . | . | . | . | . | 19 | 4117541 | 4117541 | A | G | exonic | MAP2K2 | . | nonsynonymous SNV | MAP2K2:NM_030662:exon2:c.A181C:p.K61Q | 19p13.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.415 | M | -3.21 | D | -3.54 | D | 0.491 | 5.835 | 27.2 | 0.995 | 0.989 | D | 0.926 | D | 0.873 | D | 0.672 | 0 | 4.14 | 0.938 | 0.964 | 0.998 | 1.000 | 12.153 | Deleterious |
| 1726 | 19 | 6495736 | G | A | Pathogenic/Likely pathogenic | TUBB4A | . | . | . | . | . | . | . | . | . | . | 19 | 6495736 | 6495736 | G | A | exonic | TUBB4A | . | nonsynonymous SNV | TUBB4A:NM_001289130:exon4:c.G547T:p.V183F,TUBB4A:NM_001289131:exon4:c.G547T:p.V183F,TUBB4A:NM_006087:exon4:c.G763T:p.V255F,TUBB4A:NM_001289123:exon5:c.G916T:p.V306F,TUBB4A:NM_001289127:exon5:c.G898T:p.V300F,TUBB4A:NM_001289129:exon5:c.G763T:p.V255F | 19p13.3 | . | rs767399782 | . | . | 1.0 | D | 0.974 | D | 0.000 | D | 1.000 | D | 4.11 | H | -0.89 | T | -4.2 | D | 0.778 | 6.134 | 28.4 | 0.984 | 0.966 | D | 0.966 | D | 0.838 | D | 0.696 | 0 | 3.95 | 0.871 | 0.802 | 0.986 | 0.909 | 14.813 | Deleterious |
| 1727 | 19 | 10155017 | A | G | Pathogenic/Likely pathogenic | DNMT1 | . | . | . | . | . | . | . | . | . | . | 19 | 10155017 | 10155017 | A | G | exonic | DNMT1 | . | nonsynonymous SNV | DNMT1:NM_001379:exon19:c.A1484C:p.Y495S,DNMT1:NM_001130823:exon20:c.A1532C:p.Y511S | 19p13.2 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 2.81 | M | -3.33 | D | -8.11 | D | 0.981 | 5.411 | 26.0 | 0.991 | 0.984 | D | 1.015 | D | 0.904 | D | 0.707 | 0 | 6.08 | 0.991 | 1.061 | 0.305 | 0.120 | 15.626 | Deleterious |
| 1728 | 19 | 10793799 | G | A | Pathogenic/Likely pathogenic | DNM2 | . | . | . | . | . | . | . | . | . | . | 19 | 10793799 | 10793799 | G | A | exonic | DNM2 | . | nonsynonymous SNV | DNM2:NM_001005360:exon8:c.G1072A:p.G358R,DNM2:NM_001005361:exon8:c.G1072A:p.G358R,DNM2:NM_001005362:exon8:c.G1072A:p.G358R,DNM2:NM_001190716:exon8:c.G1072A:p.G358R,DNM2:NM_004945:exon8:c.G1072A:p.G358R | 19p13.2 | . | rs267606772 | 0.001 | D | 1.0 | D | 0.992 | D | 0.000 | D | 1 | D | 3.485 | M | -1.09 | T | -6.46 | D | 0.981 | 7.292 | 34 | 0.999 | 0.994 | D | 0.684 | D | 0.714 | D | 0.707 | 0 | 4.79 | 0.917 | 0.953 | 0.960 | 0.993 | 16.623 | Deleterious |
| 1729 | 19 | 10793829 | G | A | Pathogenic | DNM2 | . | . | . | . | . | . | . | . | . | . | 19 | 10793829 | 10793829 | G | A | exonic | DNM2 | . | nonsynonymous SNV | DNM2:NM_001005360:exon8:c.G1102A:p.E368K,DNM2:NM_001005361:exon8:c.G1102A:p.E368K,DNM2:NM_001005362:exon8:c.G1102A:p.E368K,DNM2:NM_001190716:exon8:c.G1102A:p.E368K,DNM2:NM_004945:exon8:c.G1102A:p.E368K | 19p13.2 | . | rs121909092 | 0.002 | D | 0.998 | D | 0.889 | P | 0.000 | D | 1 | A | 3.055 | M | -0.85 | T | -3.63 | D | 0.976 | 7.358 | 34 | 0.999 | 0.995 | D | 0.451 | D | 0.619 | D | 0.707 | 0 | 4.93 | 0.917 | 0.953 | 0.978 | 0.989 | 16.946 | Deleterious |
| 1730 | 19 | 10798543 | C | T | Pathogenic | DNM2 | . | . | . | . | . | . | . | . | . | . | 19 | 10798543 | 10798543 | C | T | exonic | DNM2 | . | nonsynonymous SNV | DNM2:NM_001005360:exon11:c.C1393T:p.R465W,DNM2:NM_001005361:exon11:c.C1393T:p.R465W,DNM2:NM_001005362:exon11:c.C1393T:p.R465W,DNM2:NM_001190716:exon11:c.C1393T:p.R465W,DNM2:NM_004945:exon11:c.C1393T:p.R465W | 19p13.2 | . | rs121909091 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | A | 3.875 | H | -0.88 | T | -7.16 | D | 0.96 | 7.553 | 34 | 0.999 | 0.952 | D | 0.620 | D | 0.668 | D | 0.707 | 0 | 2.26 | -0.662 | -0.035 | 0.994 | 0.995 | 10.982 | Deleterious |
| 1731 | 19 | 10812271 | G | A | Pathogenic | DNM2 | . | . | . | . | . | . | . | . | . | . | 19 | 10812271 | 10812271 | G | A | exonic | DNM2 | . | nonsynonymous SNV | DNM2:NM_001005362:exon14:c.G1553A:p.R518H,DNM2:NM_004945:exon14:c.G1553A:p.R518H,DNM2:NM_001005360:exon15:c.G1565A:p.R522H,DNM2:NM_001005361:exon15:c.G1565A:p.R522H,DNM2:NM_001190716:exon15:c.G1565A:p.R522H | 19p13.2 | . | rs587783595 | 0.001 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.335 | M | -0.99 | T | -4.39 | D | 0.914 | 7.561 | 34 | 0.999 | 0.975 | D | 0.561 | D | 0.673 | D | 0.722 | 0 | 5.26 | 0.917 | 1.048 | 0.999 | 0.999 | 17.663 | Deleterious |
| 1732 | 19 | 10823886 | C | G | Pathogenic/Likely pathogenic | DNM2 | . | . | . | . | . | . | . | . | . | . | 19 | 10823886 | 10823886 | C | G | exonic | DNM2 | . | nonsynonymous SNV | DNM2:NM_001005362:exon16:c.C1868G:p.P623R,DNM2:NM_004945:exon16:c.C1868G:p.P623R,DNM2:NM_001005360:exon17:c.C1880G:p.P627R,DNM2:NM_001005361:exon17:c.C1880G:p.P627R,DNM2:NM_001190716:exon17:c.C1880G:p.P627R | 19p13.2 | . | rs587783598 | 0.004 | D | 0.998 | D | 0.982 | D | 0.000 | D | 1 | D | 3.165 | M | -3.46 | D | -7.72 | D | 0.948 | 5.724 | 26.9 | 0.997 | 0.988 | D | 1.077 | D | 0.926 | D | 0.719 | 0 | 4.92 | 0.871 | 0.774 | 0.990 | 0.953 | 16.912 | Deleterious |
| 1733 | 19 | 11089560 | G | A | Pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11089560 | 11089560 | G | A | exonic | LDLR | . | stopgain | LDLR:NM_000527:exon1:c.G12A:p.W4X,LDLR:NM_001195798:exon1:c.G12A:p.W4X,LDLR:NM_001195799:exon1:c.G12A:p.W4X,LDLR:NM_001195800:exon1:c.G12A:p.W4X,LDLR:NM_001195803:exon1:c.G12A:p.W4X | 19p13.2 | . | rs756039188 | . | . | . | . | . | . | 0.054 | U | 1 | A | . | . | . | . | . | . | . | 5.110 | 25.3 | 0.933 | 0.906 | D | . | . | . | . | 0.442 | 0 | -2.02 | 0.630 | -0.943 | 0.002 | 0.000 | 6.549 | Deleterious (FATHMM) |
| 1734 | 19 | 11100236 | C | G | Pathogenic/Likely pathogenic | LDLR | . | . | . | . | . | . | . | . | . | . | 19 | 11100236 | 11100236 | C | G | exonic | LDLR | . | nonsynonymous SNV | LDLR:NM_000527:exon2:c.C81G:p.C27W,LDLR:NM_001195798:exon2:c.C81G:p.C27W,LDLR:NM_001195799:exon2:c.C81G:p.C27W,LDLR:NM_001195800:exon2:c.C81G:p.C27W,LDLR:NM_001195803:exon2:c.C81G:p.C27W | 19p13.2 | . | rs2228671 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.295 | H | -5.89 | D | -8.36 | D | 0.915 | 4.854 | 24.9 | 0.985 | 0.372 | N | 1.103 | D | 0.987 | D | 0.646 | 0 | -1.69 | -2.004 | -0.641 | 0.018 | 0.010 | 12.726 | Deleterious |
| 675 | 8 | 89947835 | A | T | Pathogenic | NBN | . | . | . | . | . | . | . | . | . | . | 8 | 89947835 | 89947835 | A | T | exonic | NBN | . | synonymous SNV | NBN:NM_002485:exon12:c.A1903A:p.K635K,NBN:NM_001024688:exon13:c.A1657A:p.K553K | 8q21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 676 | 8 | 89953342 | C | T | Pathogenic | NBN | . | . | . | . | . | . | . | . | . | . | 8 | 89953342 | 89953342 | C | T | exonic | NBN | . | nonsynonymous SNV | NBN:NM_002485:exon11:c.C1747A:p.Q583K,NBN:NM_001024688:exon12:c.C1501A:p.Q501K | 8q21.3 | . | . | 0.033 | D | 0.981 | D | 0.651 | P | 0.929 | N | 1 | N | 0.805 | L | 2.06 | T | -1.0 | N | 0.088 | 1.408 | 12.83 | 0.976 | 0.236 | N | -0.956 | T | 0.180 | T | 0.732 | 0 | 3.45 | 0.917 | 1.048 | 0.163 | 0.992 | 8.264 | Tolerated |
| 677 | 8 | 93765617 | A | T | Pathogenic | TMEM67 | . | . | . | . | . | . | . | . | . | . | 8 | 93765617 | 93765617 | A | T | exonic | TMEM67 | . | stopgain | TMEM67:NM_153704:exon6:c.A622T:p.R208X,TMEM67:NM_001142301:exon7:c.A379T:p.R127X | 8q22.1 | 7.7e-05 | rs137853108 | . | . | . | . | . | . | 0.668 | N | 1 | A | . | . | . | . | . | . | . | 6.882 | 33 | 0.968 | 0.037 | N | . | . | . | . | 0.615 | 0 | -3.99 | -1.071 | -0.087 | 0.193 | 0.925 | 8.969 | Deleterious (DANN) |
| 678 | 8 | 93780603 | A | G | Pathogenic/Likely pathogenic | TMEM67 | . | . | . | . | . | . | . | . | . | . | 8 | 93780603 | 93780603 | A | G | exonic | TMEM67 | . | nonsynonymous SNV | TMEM67:NM_153704:exon8:c.A725G:p.N242S,TMEM67:NM_001142301:exon9:c.A482G:p.N161S | 8q22.1 | . | rs775883520 | 0.009 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 1.805 | L | -4.25 | D | -3.65 | D | 0.274 | 5.451 | 26.1 | 0.999 | 0.998 | D | 1.073 | D | 0.932 | D | 0.651 | 0 | 5.84 | 1.062 | 1.088 | 0.496 | 0.940 | 16.221 | Deleterious |
| 679 | 8 | 93781725 | T | C | Pathogenic/Likely pathogenic | TMEM67 | . | . | . | . | . | . | . | . | . | . | 8 | 93781725 | 93781725 | T | C | exonic | TMEM67 | . | nonsynonymous SNV | TMEM67:NM_153704:exon10:c.T1046C:p.L349S,TMEM67:NM_001142301:exon11:c.T803C:p.L268S | 8q22.1 | . | rs386834180 | 0.004 | D | 0.973 | D | 0.9 | P | 0.005 | N | 1.000 | D | 1.49 | L | -4.66 | D | -2.51 | D | 0.873 | 6.268 | 29.0 | 0.999 | 0.989 | D | 1.063 | D | 0.926 | D | 0.651 | 0 | 5.73 | 0.991 | 0.964 | 0.996 | 0.999 | 14.604 | Deleterious |
| 680 | 8 | 93787842 | A | G | Pathogenic/Likely pathogenic | TMEM67 | . | . | . | . | . | . | . | . | . | . | 8 | 93787842 | 93787842 | A | G | splicing | TMEM67 | NM_001142301:exon15:c.1170-2A>G,NM_153704:exon14:c.1413-2A>G | . | . | 8q22.1 | . | rs786205608 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.623 | 23.2 | 0.990 | 0.992 | D | . | . | . | . | 0.106 | 0 | 5.59 | 1.062 | 1.088 | 0.946 | 0.954 | 15.439 | Deleterious (FATHMM) |
| 681 | 8 | 93795970 | T | C | Pathogenic | TMEM67 | . | . | . | . | . | . | . | . | . | . | 8 | 93795970 | 93795970 | T | C | exonic | TMEM67 | . | nonsynonymous SNV | TMEM67:NM_153704:exon18:c.T1843C:p.C615R,TMEM67:NM_001142301:exon19:c.T1600C:p.C534R | 8q22.1 | . | rs201893408 | 0.008 | D | 0.99 | D | 0.848 | P | 0.000 | D | 1 | A | 1.61 | L | -4.15 | D | -5.04 | D | 0.973 | 6.182 | 28.6 | 0.997 | 0.985 | D | 1.026 | D | 0.893 | D | 0.651 | 0 | 5.28 | 0.991 | 0.993 | 0.997 | 1.000 | 15.504 | Deleterious |
| 682 | 8 | 99384272 | G | A | Pathogenic/Likely pathogenic | VPS13B | . | . | . | . | . | . | . | . | . | . | 8 | 99384272 | 99384272 | G | A | exonic | VPS13B | . | stopgain | VPS13B:NM_017890:exon20:c.G2889A:p.W963X,VPS13B:NM_152564:exon20:c.G2889A:p.W963X | 8q22.2 | . | rs386834078 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.691 | 40 | 0.994 | 0.985 | D | . | . | . | . | 0.615 | 0 | 5.37 | 0.917 | 0.998 | 0.813 | 0.736 | 19.099 | Deleterious (FATHMM) |
| 683 | 8 | 132180246 | C | T | Pathogenic/Likely pathogenic | KCNQ3 | . | . | . | . | . | . | . | . | . | . | 8 | 132180246 | 132180246 | C | T | exonic | KCNQ3 | . | nonsynonymous SNV | KCNQ3:NM_001204824:exon4:c.C328A:p.R110S,KCNQ3:NM_004519:exon4:c.C688A:p.R230S | 8q24.22 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.99 | M | -5.0 | D | -5.6 | D | 0.992 | 6.736 | 32 | 0.996 | 0.953 | D | 1.100 | D | 0.970 | D | 0.638 | 0 | 5.52 | 0.917 | 1.048 | 0.974 | 1.000 | 18.410 | Deleterious |
| 684 | 8 | 132882609 | C | T | Pathogenic | TG | . | . | . | . | . | . | . | . | . | . | 8 | 132882609 | 132882609 | C | T | exonic | TG | . | stopgain | TG:NM_003235:exon7:c.C886T:p.R296X | 8q24.22 | 0.0006 | rs121912648 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.570 | 37 | 0.998 | 0.903 | D | . | . | . | . | 0.487 | 0 | 5.63 | 0.871 | 0.935 | 0.994 | 0.809 | 14.195 | Deleterious (FATHMM) |
| 685 | 8 | 144360408 | G | A | Pathogenic | SLC52A2 | . | . | . | . | . | . | . | . | . | . | 8 | 144360408 | 144360408 | G | A | exonic | SLC52A2 | . | nonsynonymous SNV | SLC52A2:NM_001253815:exon3:c.G916A:p.G306R,SLC52A2:NM_001253816:exon3:c.G916A:p.G306R,SLC52A2:NM_024531:exon3:c.G916A:p.G306R | 8q24.3 | . | rs398124641 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.995 | M | -1.25 | T | -7.14 | D | 0.961 | 6.119 | 28.3 | 0.999 | 0.977 | D | 0.533 | D | 0.672 | D | 0.672 | 0 | 4.69 | 0.917 | 0.953 | 0.998 | 0.918 | 15.112 | Deleterious |
| 686 | 8 | 144360427 | T | C | Pathogenic/Likely pathogenic | SLC52A2 | . | . | . | . | . | . | . | . | . | . | 8 | 144360427 | 144360427 | T | C | exonic | SLC52A2 | . | nonsynonymous SNV | SLC52A2:NM_001253815:exon3:c.T935C:p.L312P,SLC52A2:NM_001253816:exon3:c.T935C:p.L312P,SLC52A2:NM_024531:exon3:c.T935C:p.L312P | 8q24.3 | . | rs754320812 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.985 | M | -1.41 | T | -6.77 | D | 0.901 | 5.749 | 27.0 | 0.999 | 0.981 | D | 0.546 | D | 0.697 | D | 0.672 | 0 | 4.69 | 0.991 | 0.964 | 0.998 | 0.788 | 12.104 | Deleterious |
| 687 | 8 | 144360935 | G | A | Pathogenic/Likely pathogenic | SLC52A2 | . | . | . | . | . | . | . | . | . | . | 8 | 144360935 | 144360935 | G | A | exonic | SLC52A2 | . | nonsynonymous SNV | SLC52A2:NM_001253815:exon5:c.G1258A:p.A420T,SLC52A2:NM_001253816:exon5:c.G1258A:p.A420T,SLC52A2:NM_024531:exon5:c.G1258A:p.A420T | 8q24.3 | 7.7e-05 | rs368924997 | 0.002 | D | 0.974 | D | 0.649 | P | 0.000 | D | 1 | D | 2.28 | M | -1.57 | D | -3.14 | D | 0.713 | 6.037 | 28.0 | 0.999 | 0.980 | D | 0.454 | D | 0.774 | D | 0.707 | 0 | 5.25 | 0.917 | 1.048 | 0.455 | 0.032 | 16.414 | Deleterious |
| 688 | 9 | 21970902 | G | T | Pathogenic | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21970902 | 21970902 | G | T | exonic | CDKN2A | . | nonsynonymous SNV | CDKN2A:NM_000077:exon2:c.G457A:p.D153N,CDKN2A:NM_001195132:exon2:c.G457A:p.E153K | 9p21.3 | . | rs45476696 | 0.26 | T | 0.008 | B | 0.007 | B | . | . | 1 | D | 1.24 | L | -1.15 | T | -0.41 | N | . | 2.584 | 20.0 | 0.993 | 0.912 | D | -0.372 | T | 0.381 | T | 0.610 | 0 | 3.31 | 0.827 | 0.789 | 0.169 | 0.174 | 9.714 | Tolerated |
| 689 | 9 | 21970982 | T | A | Pathogenic, risk factor | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21970982 | 21970982 | T | A | exonic | CDKN2A | . | synonymous SNV | CDKN2A:NM_000077:exon2:c.T377T:p.V126V,CDKN2A:NM_001195132:exon2:c.T377T:p.V126V | 9p21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 690 | 9 | 21971037 | G | T | Pathogenic/Likely pathogenic | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21971037 | 21971037 | G | T | exonic | CDKN2A | . | nonsynonymous SNV | CDKN2A:NM_000077:exon2:c.G322A:p.D108N,CDKN2A:NM_001195132:exon2:c.G322A:p.D108N,CDKN2A:NM_058195:exon2:c.G365A:p.R122Q | 9p21.3 | . | rs121913381 | 0.076 | T | 1.0 | D | 0.945 | D | 0.010 | N | 1.000 | D | 0.895 | L | -1.22 | T | -2.27 | N | . | 7.298 | 34 | 0.998 | 0.971 | D | 0.087 | D | 0.548 | D | 0.610 | 0 | 5.93 | 0.871 | 0.935 | 0.961 | 0.998 | 19.122 | Deleterious |
| 691 | 9 | 21971058 | G | T | Pathogenic, risk factor | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21971058 | 21971058 | G | T | exonic | CDKN2A | . | nonsynonymous SNV | CDKN2A:NM_000077:exon2:c.G301A:p.G101R,CDKN2A:NM_001195132:exon2:c.G301A:p.G101R,CDKN2A:NM_058195:exon2:c.G344A:p.R115Q | 9p21.3 | . | . | 0.102 | T | 0.998 | D | 0.652 | P | 0.620 | N | 0.999 | D | 0.975 | L | -1.71 | D | -3.08 | D | . | 5.599 | 26.5 | 0.997 | 0.919 | D | 0.013 | D | 0.538 | D | 0.610 | 0 | 5.93 | 0.871 | 0.935 | 0.911 | 0.947 | 19.103 | Deleterious |
| 692 | 9 | 21971200 | G | C | Pathogenic, risk factor | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21971200 | 21971200 | G | C | exonic | CDKN2A | . | synonymous SNV | CDKN2A:NM_000077:exon2:c.G159G:p.M53M,CDKN2A:NM_001195132:exon2:c.G159G:p.M53M,CDKN2A:NM_058195:exon2:c.G202G:p.D68D | 9p21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 693 | 9 | 21971209 | G | C | Pathogenic | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21971209 | 21971209 | G | C | splicing | CDKN2A | NM_000077:exon2:c.151-1C>G,NM_058195:exon2:c.194-1C>G,NM_058197:exon2:c.425-1C>G,NM_001195132:exon2:c.151-1C>G | . | . | 9p21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 694 | 9 | 21974680 | C | T | Pathogenic | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21974680 | 21974680 | C | T | exonic | CDKN2A | . | nonsynonymous SNV | CDKN2A:NM_000077:exon1:c.C148A:p.Q50K,CDKN2A:NM_001195132:exon1:c.C148A:p.Q50K,CDKN2A:NM_058197:exon1:c.C148A:p.Q50K | 9p21.3 | . | . | 0.002 | D | 1.0 | D | 0.998 | D | . | . | 1 | D | 1.735 | L | -0.07 | T | -3.46 | D | 0.948 | 5.975 | 27.7 | 0.987 | 0.963 | D | -0.038 | T | 0.561 | D | 0.658 | 0 | 4.89 | 0.917 | 1.048 | 0.071 | 0.854 | 17.323 | Deleterious |
| 695 | 9 | 21974757 | G | C | Pathogenic, risk factor | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21974757 | 21974757 | G | C | exonic | CDKN2A | . | synonymous SNV | CDKN2A:NM_000077:exon1:c.G71G:p.R24R,CDKN2A:NM_001195132:exon1:c.G71G:p.R24R,CDKN2A:NM_058197:exon1:c.G71G:p.R24R | 9p21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 696 | 9 | 21974861 | G | T | Pathogenic | CDKN2A | . | . | . | . | . | . | . | . | . | . | 9 | 21974861 | 21974861 | G | T | UTR5 | CDKN2A | NM_000077:c.-34C>A,NM_001195132:c.-34C>A | . | . | 9p21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 697 | 9 | 32974495 | G | A | Pathogenic | APTX | . | . | . | . | . | . | . | . | . | . | 9 | 32974495 | 32974495 | G | A | exonic | APTX | . | nonsynonymous SNV | APTX:NM_001195250:exon6:c.G717T:p.W239C,APTX:NM_001195254:exon6:c.G675T:p.W225C,APTX:NM_001195248:exon7:c.G879T:p.W293C,APTX:NM_001195249:exon7:c.G837T:p.W279C,APTX:NM_001195252:exon7:c.G663T:p.W221C,APTX:NM_175069:exon7:c.G879T:p.W293C,APTX:NM_001195251:exon8:c.G837T:p.W279C,APTX:NM_175073:exon8:c.G837T:p.W279C | 9p21.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.19 | M | -2.57 | D | -12.7 | D | 0.986 | 7.491 | 34 | 0.992 | 0.989 | D | 0.996 | D | 0.903 | D | 0.732 | 0 | 6.01 | 0.871 | 0.935 | 1.000 | 1.000 | 18.015 | Deleterious |
| 698 | 9 | 34647490 | A | G | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34647490 | 34647490 | A | G | splicing | GALT | NM_000155:exon3:c.253-2A>G | . | . | 9p13.3 | . | rs111033661 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 4.121 | 23.8 | 0.986 | 0.721 | D | . | . | . | . | 0.493 | 0 | 5.15 | 1.062 | 1.199 | 0.985 | 0.999 | 9.197 | Deleterious (FATHMM) |
| 699 | 9 | 34647858 | C | T | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34647858 | 34647858 | C | T | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon3:c.C77T:p.S26L,GALT:NM_000155:exon5:c.C404T:p.S135L | 9p13.3 | 0.0008 | rs111033690 | 0.003 | D | 1.0 | D | 0.995 | D | 0.001 | U | 1 | D | 2.175 | M | -5.77 | D | -4.43 | D | 0.908 | 7.145 | 34 | 0.999 | 0.962 | D | 0.904 | D | 0.965 | D | 0.660 | 0 | 5.3 | 0.871 | 0.935 | 0.997 | 1.000 | 16.098 | Deleterious |
| 700 | 9 | 34647879 | T | A | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34647879 | 34647879 | T | A | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon3:c.T98A:p.M33K,GALT:NM_000155:exon5:c.T425A:p.M142K | 9p13.3 | . | rs111033695 | 0.0 | D | 0.999 | D | 0.995 | D | 0.000 | U | 1 | D | 4.055 | H | -6.04 | D | -5.24 | D | 0.984 | 4.242 | 23.9 | 0.985 | 0.964 | D | 1.003 | D | 0.988 | D | 0.660 | 0 | 5.3 | 0.991 | 1.061 | 0.999 | 0.998 | 12.977 | Deleterious |
| 701 | 9 | 34648170 | A | G | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648170 | 34648170 | A | G | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon4:c.A236G:p.Q79R,GALT:NM_000155:exon6:c.A563G:p.Q188R | 9p13.3 | 0.0021 | rs75391579 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | A | 4.215 | H | -8.53 | D | -3.27 | D | 0.99 | 5.090 | 25.3 | 0.998 | 0.984 | D | 0.909 | D | 0.998 | D | 0.660 | 0 | 4.77 | 1.062 | 1.199 | 0.989 | 0.997 | 13.624 | Deleterious |
| 702 | 9 | 34648353 | T | C | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648353 | 34648353 | T | C | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon5:c.T257C:p.L86P,GALT:NM_000155:exon7:c.T584C:p.L195P | 9p13.3 | . | rs111033728 | 0.094 | T | 0.847 | P | 0.468 | P | 0.002 | U | 1 | A | 3.795 | H | -5.98 | D | -5.23 | D | 0.983 | 5.450 | 26.1 | 0.994 | 0.996 | D | 1.146 | D | 0.976 | D | 0.737 | 0 | 4.78 | 0.991 | 1.061 | 0.997 | 1.000 | 11.802 | Deleterious |
| 703 | 9 | 34648379 | C | T | Pathogenic/Likely pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648379 | 34648379 | C | T | exonic | GALT | . | stopgain | GALT:NM_001258332:exon5:c.C283T:p.R95X,GALT:NM_000155:exon7:c.C610T:p.R204X | 9p13.3 | . | rs111033737 | . | . | . | . | . | . | 0.000 | U | 1 | A | . | . | . | . | . | . | . | 8.860 | 35 | 0.993 | 0.977 | D | . | . | . | . | 0.737 | 0 | 0.816 | 0.871 | 0.048 | 0.996 | 0.999 | 8.131 | Deleterious (FATHMM) |
| 704 | 9 | 34648395 | A | G | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648395 | 34648395 | A | G | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon5:c.A299G:p.Y100C,GALT:NM_000155:exon7:c.A626G:p.Y209C | 9p13.3 | . | rs111033744 | 0.013 | D | 1.0 | D | 0.997 | D | 0.022 | U | 0.991 | D | 3.565 | H | -5.98 | D | -6.87 | D | 0.927 | 3.644 | 23.2 | 0.995 | 0.984 | D | 1.049 | D | 0.991 | D | 0.737 | 0 | 3.78 | 1.062 | 1.199 | 0.959 | 0.986 | 7.782 | Deleterious |
| 705 | 9 | 34648403 | C | T | Pathogenic/Likely pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648403 | 34648403 | C | T | exonic | GALT | . | stopgain | GALT:NM_001258332:exon5:c.C307T:p.Q103X,GALT:NM_000155:exon7:c.C634T:p.Q212X | 9p13.3 | . | rs111033746 | . | . | . | . | . | . | 0.017 | U | 1 | A | . | . | . | . | . | . | . | 8.258 | 35 | 0.994 | 0.821 | D | . | . | . | . | 0.737 | 0 | 3.7 | 0.871 | 0.935 | 0.753 | 0.994 | 7.696 | Deleterious (FATHMM) |
| 706 | 9 | 34648765 | C | T | Pathogenic/Likely pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648765 | 34648765 | C | T | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon6:c.C364T:p.R122C,GALT:NM_000155:exon8:c.C691T:p.R231C | 9p13.3 | . | rs111033749 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | A | 4.21 | H | -5.7 | D | -7.67 | D | 0.989 | 7.742 | 35 | 0.999 | 0.981 | D | 1.002 | D | 0.989 | D | 0.719 | 0 | 5.78 | 0.871 | 0.935 | 0.976 | 0.988 | 16.745 | Deleterious |
| 707 | 9 | 34648849 | C | T | Pathogenic/Likely pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34648849 | 34648849 | C | T | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon6:c.C448T:p.R150W,GALT:NM_000155:exon8:c.C775T:p.R259W | 9p13.3 | . | rs786204763 | 0.022 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 3.91 | H | -5.77 | D | -5.55 | D | 0.963 | 6.962 | 33 | 0.999 | 0.351 | N | 1.026 | D | 0.985 | D | 0.719 | 0 | 3.73 | -0.444 | 0.036 | 0.787 | 0.997 | 13.739 | Deleterious |
| 708 | 9 | 34649032 | G | T | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34649032 | 34649032 | G | T | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon7:c.G528T:p.K176N,GALT:NM_000155:exon9:c.G855T:p.K285N | 9p13.3 | 0.0004 | rs111033773 | 0.001 | D | 0.997 | D | 0.972 | D | 0.000 | U | 1 | A | 3.43 | M | -5.86 | D | -4.04 | D | 0.513 | 5.594 | 26.5 | 0.999 | 0.945 | D | 1.056 | D | 0.984 | D | 0.732 | 0 | 4.67 | 0.069 | 1.048 | 0.998 | 1.000 | 11.473 | Deleterious |
| 709 | 9 | 34649452 | G | A | Pathogenic/Likely pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34649452 | 34649452 | G | A | exonic | GALT | . | stopgain | GALT:NM_001258332:exon8:c.G620A:p.W207X,GALT:NM_000155:exon10:c.G947A:p.W316X | 9p13.3 | . | rs111033790 | . | . | . | . | . | . | 0.000 | U | 1 | A | . | . | . | . | . | . | . | 12.573 | 39 | 0.995 | 0.994 | D | . | . | . | . | 0.707 | 0 | 5.3 | 0.917 | 1.048 | 0.951 | 0.991 | 17.533 | Deleterious (FATHMM) |
| 710 | 9 | 34649502 | C | T | Pathogenic/Likely pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34649502 | 34649502 | C | T | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon8:c.C670T:p.R224W,GALT:NM_000155:exon10:c.C997T:p.R333W | 9p13.3 | 7.7e-05 | rs111033800 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | U | 1.000 | D | 3.47 | M | -5.87 | D | -6.37 | D | 0.942 | 7.612 | 34 | 0.999 | 0.969 | D | 1.031 | D | 0.986 | D | 0.707 | 0 | 4.29 | 0.871 | 0.048 | 0.981 | 0.999 | 13.900 | Deleterious |
| 711 | 9 | 34649535 | C | A | Pathogenic | GALT | . | . | . | . | . | . | . | . | . | . | 9 | 34649535 | 34649535 | C | A | exonic | GALT | . | nonsynonymous SNV | GALT:NM_001258332:exon8:c.C703A:p.Q235K,GALT:NM_000155:exon10:c.C1030A:p.Q344K | 9p13.3 | 7.7e-05 | rs111033814 | 0.002 | D | 0.866 | P | 0.507 | P | 0.000 | U | 1.000 | D | 2.645 | M | -5.47 | D | -2.4 | N | 0.933 | 6.242 | 28.9 | 0.990 | 0.983 | D | 1.118 | D | 0.957 | D | 0.707 | 0 | 5.21 | 0.871 | 0.935 | 0.997 | 0.998 | 17.317 | Deleterious |
| 712 | 9 | 36217448 | G | A | Pathogenic/Likely pathogenic | GNE | . | . | . | . | . | . | . | . | . | . | 9 | 36217448 | 36217448 | G | A | exonic | GNE | . | nonsynonymous SNV | GNE:NM_001190384:exon10:c.G1756T:p.V586L,GNE:NM_001190383:exon11:c.G1864T:p.V622L,GNE:NM_001190388:exon11:c.G2071T:p.V691L,GNE:NM_001128227:exon12:c.G2179T:p.V727L,GNE:NM_005476:exon12:c.G2086T:p.V696L | 9p13.3 | 0.0013 | rs121908627 | 0.235 | T | 0.841 | P | 0.785 | P | 0.000 | D | 1 | D | 1.08 | L | -4.71 | D | -0.37 | N | 0.746 | 3.728 | 23.3 | 0.993 | 0.990 | D | 1.133 | D | 0.967 | D | 0.719 | 0 | 5.67 | 0.871 | 0.935 | 0.988 | 0.898 | 17.256 | Deleterious |
| 713 | 9 | 36218224 | C | T | Pathogenic | GNE | . | . | . | . | . | . | . | . | . | . | 9 | 36218224 | 36218224 | C | T | exonic | GNE | . | nonsynonymous SNV | GNE:NM_001190384:exon9:c.C1562A:p.A521E,GNE:NM_001190383:exon10:c.C1670A:p.A557E,GNE:NM_001190388:exon10:c.C1877A:p.A626E,GNE:NM_001128227:exon11:c.C1985A:p.A662E,GNE:NM_005476:exon11:c.C1892A:p.A631E | 9p13.3 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.79 | M | -5.23 | D | -1.07 | N | 0.925 | 6.355 | 29.4 | 0.995 | 0.940 | D | 0.990 | D | 0.990 | D | 0.732 | 0 | 4.66 | 0.917 | 1.048 | 0.976 | 0.997 | 14.016 | Deleterious |
| 714 | 9 | 36219894 | T | C | Pathogenic/Likely pathogenic | GNE | . | . | . | . | . | . | . | . | . | . | 9 | 36219894 | 36219894 | T | C | exonic | GNE | . | nonsynonymous SNV | GNE:NM_001190384:exon8:c.T1430G:p.I477S,GNE:NM_001190383:exon9:c.T1538G:p.I513S,GNE:NM_001190388:exon9:c.T1745G:p.I582S,GNE:NM_001128227:exon10:c.T1853G:p.I618S,GNE:NM_005476:exon10:c.T1760G:p.I587S | 9p13.3 | . | . | 0.001 | D | 0.324 | B | 0.216 | B | 0.000 | D | 1 | D | 2.505 | M | -4.16 | D | -1.4 | N | 0.907 | 5.107 | 25.3 | 0.991 | 0.969 | D | 0.873 | D | 0.876 | D | 0.707 | 0 | 5.75 | 1.062 | 1.140 | 0.998 | 0.999 | 13.996 | Deleterious |
| 715 | 9 | 36236954 | T | C | Pathogenic/Likely pathogenic | GNE | . | . | . | . | . | . | . | . | . | . | 9 | 36236954 | 36236954 | T | C | exonic | GNE | . | nonsynonymous SNV | GNE:NM_001190388:exon3:c.T632G:p.V211G,GNE:NM_001128227:exon4:c.T740G:p.V247G,GNE:NM_001190383:exon4:c.T647G:p.V216G,GNE:NM_005476:exon4:c.T647G:p.V216G | 9p13.3 | . | . | 0.014 | D | 0.999 | D | 0.994 | D | 0.000 | D | 1 | D | 2.125 | M | -5.72 | D | -5.65 | D | 0.962 | 5.756 | 27.0 | 0.997 | 0.993 | D | 1.090 | D | 0.974 | D | 0.732 | 0 | 6.06 | 1.062 | 1.199 | 0.995 | 0.999 | 14.561 | Deleterious |
| 716 | 9 | 36246120 | A | T | Pathogenic | GNE | . | . | . | . | . | . | . | . | . | . | 9 | 36246120 | 36246120 | A | T | exonic | GNE | . | synonymous SNV | GNE:NM_001190384:exon2:c.A350A:p.D117D,GNE:NM_001190388:exon2:c.A512A:p.D171D,GNE:NM_001128227:exon3:c.A620A:p.D207D,GNE:NM_001190383:exon3:c.A527A:p.D176D,GNE:NM_005476:exon3:c.A527A:p.D176D | 9p13.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 717 | 9 | 37783993 | A | C | Pathogenic/Likely pathogenic | EXOSC3 | . | . | . | . | . | . | . | . | . | . | 9 | 37783993 | 37783993 | A | C | exonic | EXOSC3 | . | nonsynonymous SNV | EXOSC3:NM_001002269:exon2:c.A395G:p.D132G,EXOSC3:NM_016042:exon2:c.A395G:p.D132G | 9p13.2 | . | . | 0.004 | D | 0.999 | D | 0.984 | D | 0.000 | D | 1 | D | 2.87 | M | -1.99 | D | -6.52 | D | 0.991 | 5.965 | 27.7 | 0.998 | 0.968 | D | 0.703 | D | 0.767 | D | 0.660 | 0 | 5.34 | 0.991 | 1.061 | 1.000 | 0.999 | 13.558 | Deleterious |
| 718 | 9 | 72694578 | C | T | Pathogenic | TMC1 | . | . | . | . | . | . | . | . | . | . | 9 | 72694578 | 72694578 | C | T | exonic | TMC1 | . | stopgain | TMC1:NM_138691:exon7:c.C100T:p.R34X | 9q21.13 | . | rs121908073 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.689 | 36 | 0.998 | 0.572 | D | . | . | . | . | 0.516 | 0 | 3.36 | -0.022 | -0.421 | 0.990 | 0.991 | 10.218 | Deleterious (FATHMM) |
| 719 | 9 | 95101742 | C | T | Pathogenic | FANCC|C9orf3 | . | . | . | . | . | . | . | . | . | . | 9 | 95101742 | 95101742 | C | T | exonic | FANCC | . | synonymous SNV | FANCC:NM_000136:exon15:c.C1642A:p.R548R,FANCC:NM_001243743:exon15:c.C1642A:p.R548R | 9q22.32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 720 | 9 | 95126582 | G | C | Pathogenic/Likely pathogenic | FANCC|C9orf3 | . | . | . | . | . | . | . | . | . | . | 9 | 95126582 | 95126582 | G | C | splicing | FANCC | NM_000136:exon9:c.844-1C>G,NM_001243743:exon9:c.844-1C>G,NM_001243744:exon9:c.844-1C>G | . | . | 9q22.32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 721 | 9 | 95135345 | G | A | Pathogenic/Likely pathogenic | FANCC|C9orf3 | . | . | . | . | . | . | . | . | . | . | 9 | 95135345 | 95135345 | G | A | splicing | FANCC | NM_000136:exon8:c.843+1C>T,NM_001243743:exon8:c.843+1C>T,NM_001243744:exon8:c.843+1C>T | . | . | 9q22.32 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.239 | 25.6 | 0.994 | 0.987 | D | . | . | . | . | 0.078 | 0 | 4.98 | 0.871 | 0.935 | 0.958 | 0.994 | 17.180 | Deleterious (FATHMM) |
| 722 | 9 | 95172033 | A | T | Pathogenic | FANCC | . | . | . | . | . | . | . | . | . | . | 9 | 95172033 | 95172033 | A | T | intronic | FANCC | . | . | . | 9q22.32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 723 | 9 | 95249255 | C | T | Pathogenic/Likely pathogenic | FANCC | . | . | . | . | . | . | . | . | . | . | 9 | 95249255 | 95249255 | C | T | exonic | FANCC | . | nonsynonymous SNV | FANCC:NM_000136:exon2:c.C37A:p.Q13K,FANCC:NM_001243743:exon2:c.C37A:p.Q13K,FANCC:NM_001243744:exon2:c.C37A:p.Q13K | 9q22.32 | . | . | 0.108 | T | 0.489 | P | 0.265 | B | 0.003 | N | 0.532 | D | 1.43 | L | 0.74 | T | -1.88 | N | 0.308 | 3.880 | 23.5 | 0.989 | 0.641 | D | -0.789 | T | 0.116 | T | 0.615 | 0 | 3.11 | -0.044 | 1.048 | 0.823 | 1.000 | 10.363 | Tolerated |
| 724 | 9 | 96254864 | A | T | Pathogenic | HSD17B3 | . | . | . | . | . | . | . | . | . | . | 9 | 96254864 | 96254864 | A | T | intronic | HSD17B3 | . | . | . | 9q22.32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 725 | 9 | 99149252 | C | T | Pathogenic | TGFBR1 | . | . | . | . | . | . | . | . | . | . | 9 | 99149252 | 99149252 | C | T | exonic | TGFBR1 | . | nonsynonymous SNV | TGFBR1:NM_001130916:exon8:c.C1228T:p.R410W,TGFBR1:NM_001306210:exon9:c.C1471T:p.R491W,TGFBR1:NM_004612:exon9:c.C1459T:p.R487W | 9q22.33 | . | rs111426349 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.53 | H | -3.24 | D | -7.17 | D | 0.963 | 6.960 | 33 | 0.999 | 0.944 | D | 1.066 | D | 0.917 | D | 0.732 | 0 | 3.77 | 0.871 | 0.935 | 0.998 | 1.000 | 14.202 | Deleterious |
| 726 | 9 | 99149253 | G | A | Pathogenic | TGFBR1 | . | . | . | . | . | . | . | . | . | . | 9 | 99149253 | 99149253 | G | A | exonic | TGFBR1 | . | nonsynonymous SNV | TGFBR1:NM_001130916:exon8:c.G1229A:p.R410Q,TGFBR1:NM_001306210:exon9:c.G1472A:p.R491Q,TGFBR1:NM_004612:exon9:c.G1460A:p.R487Q | 9q22.33 | . | rs113605875 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 1.725 | L | -3.05 | D | -3.6 | D | 0.946 | 7.117 | 34 | 1.000 | 0.993 | D | 0.833 | D | 0.844 | D | 0.732 | 0 | 5.66 | 0.917 | 1.048 | 0.997 | 0.999 | 18.885 | Deleterious |
| 727 | 9 | 101426567 | T | A | Pathogenic/Likely pathogenic | ALDOB | . | . | . | . | . | . | . | . | . | . | 9 | 101426567 | 101426567 | T | A | exonic | ALDOB | . | synonymous SNV | ALDOB:NM_000035:exon6:c.T612T:p.Y204Y | 9q31.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 728 | 9 | 101427498 | C | A | Pathogenic | ALDOB | . | . | . | . | . | . | . | . | . | . | 9 | 101427498 | 101427498 | C | A | exonic | ALDOB | . | nonsynonymous SNV | ALDOB:NM_000035:exon5:c.C524T:p.A175V | 9q31.1 | . | . | 0.0 | D | 1.0 | D | 0.988 | D | 0.000 | D | 1 | D | 3.74 | H | -3.04 | D | -3.81 | D | 0.884 | 7.352 | 34 | 0.999 | 0.998 | D | 1.036 | D | 0.923 | D | 0.487 | 0 | 6.17 | 0.917 | 1.048 | 0.999 | 0.998 | 19.868 | Deleterious |
| 729 | 9 | 101427574 | G | C | Pathogenic | ALDOB | . | . | . | . | . | . | . | . | . | . | 9 | 101427574 | 101427574 | G | C | exonic | ALDOB | . | synonymous SNV | ALDOB:NM_000035:exon5:c.G448G:p.A150A | 9q31.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 730 | 9 | 105604256 | C | A | Pathogenic/Likely pathogenic | FKTN | . | . | . | . | . | . | . | . | . | . | 9 | 105604256 | 105604256 | C | A | exonic | FKTN | . | stopgain | FKTN:NM_006731:exon5:c.C411A:p.C137X,FKTN:NM_001079802:exon6:c.C411A:p.C137X,FKTN:NM_001198963:exon6:c.C411A:p.C137X | 9q31.2 | . | rs537001725 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.239 | 36 | 0.994 | 0.831 | D | . | . | . | . | 0.638 | 0 | 3.07 | 0.871 | 0.852 | 0.999 | 0.999 | 7.889 | Deleterious (FATHMM) |
| 731 | 9 | 105604452 | C | T | Pathogenic | FKTN | . | . | . | . | . | . | . | . | . | . | 9 | 105604452 | 105604452 | C | T | exonic | FKTN | . | stopgain | FKTN:NM_006731:exon5:c.C607T:p.R203X,FKTN:NM_001079802:exon6:c.C607T:p.R203X,FKTN:NM_001198963:exon6:c.C607T:p.R203X | 9q31.2 | . | rs746763506 | . | . | . | . | . | . | 0.003 | N | 1 | A | . | . | . | . | . | . | . | 11.496 | 37 | 0.997 | 0.841 | D | . | . | . | . | 0.638 | 0 | 4.45 | 0.871 | 0.058 | 0.997 | 0.993 | 14.492 | Deleterious (FATHMM) |
| 732 | 9 | 108899816 | T | C | Pathogenic | IKBKAP | . | . | . | . | . | . | . | . | . | . | 9 | 108899816 | 108899816 | T | C | intronic | IKBKAP | . | . | . | 9q31.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 733 | 9 | 114195977 | G | C | Pathogenic | COL27A1 | . | . | . | . | . | . | . | . | . | . | 9 | 114195977 | 114195977 | G | C | exonic | COL27A1 | . | nonsynonymous SNV | COL27A1:NM_032888:exon7:c.G2089C:p.G697R | 9q32 | 7.7e-05 | rs140950220 | 0.002 | D | 1.0 | D | 1.0 | D | . | . | 1.000 | D | 3.34 | M | -5.77 | D | -6.8 | D | 0.861 | 5.001 | 25.1 | 0.986 | 0.986 | D | 1.013 | D | 0.989 | D | 0.737 | 0 | 5.67 | 0.917 | 0.998 | 0.993 | 1.000 | 17.270 | Deleterious |
| 734 | 9 | 120409290 | C | T | Pathogenic/Likely pathogenic | CDK5RAP2 | . | . | . | . | . | . | . | . | . | . | 9 | 120409290 | 120409290 | C | T | exonic | CDK5RAP2 | . | synonymous SNV | CDK5RAP2:NM_001272039:exon27:c.C3751A:p.R1251R,CDK5RAP2:NM_001011649:exon30:c.C4441A:p.R1481R,CDK5RAP2:NM_018249:exon30:c.C4441A:p.R1481R | 9q33.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 735 | 9 | 127661140 | C | T | Pathogenic | STXBP1 | . | . | . | . | . | . | . | . | . | . | 9 | 127661140 | 127661140 | C | T | exonic | STXBP1 | . | stopgain | STXBP1:NM_001032221:exon6:c.C364T:p.R122X,STXBP1:NM_003165:exon6:c.C364T:p.R122X | 9q34.11 | . | rs794727792 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.979 | 37 | 0.997 | 0.916 | D | . | . | . | . | 0.706 | 0 | 4.92 | 0.871 | 0.935 | 0.997 | 0.969 | 12.657 | Deleterious (FATHMM) |
| 736 | 9 | 127668159 | C | T | Pathogenic/Likely pathogenic | STXBP1 | . | . | . | . | . | . | . | . | . | . | 9 | 127668159 | 127668159 | C | T | exonic | STXBP1 | . | nonsynonymous SNV | STXBP1:NM_001032221:exon10:c.C874T:p.R292C,STXBP1:NM_003165:exon10:c.C874T:p.R292C | 9q34.11 | . | rs786205598 | 0.0 | D | 0.997 | D | 0.901 | P | 0.000 | D | 1 | D | 3.97 | H | -1.43 | T | -7.58 | D | 0.944 | 5.902 | 27.5 | 0.999 | 0.947 | D | 0.808 | D | 0.776 | D | 0.706 | 0 | 5.65 | 0.871 | 0.887 | 0.998 | 0.956 | 17.564 | Deleterious |
| 737 | 9 | 127818220 | G | A | Pathogenic/Likely pathogenic | ENG|LOC102723566 | . | . | . | . | . | . | . | . | . | . | 9 | 127818220 | 127818220 | G | A | exonic | ENG | . | nonsynonymous SNV | ENG:NM_000118:exon12:c.G1586T:p.R529L,ENG:NM_001114753:exon12:c.G1586T:p.R529L,ENG:NM_001278138:exon12:c.G1040T:p.R347L | 9q34.11 | . | . | 0.004 | D | 1.0 | D | 0.999 | D | 0.000 | D | 0.716 | D | 0.975 | L | -1.6 | D | -4.66 | D | 0.74 | 6.627 | 32 | 0.998 | 0.682 | D | 0.234 | D | 0.551 | D | 0.722 | 0 | 4.24 | 0.598 | 0.935 | 0.504 | 0.865 | 9.96 | Deleterious |
| 738 | 9 | 127829686 | G | A | Pathogenic | ENG | . | . | . | . | . | . | . | . | . | . | 9 | 127829686 | 127829686 | G | A | splicing | ENG | NM_000118:exon3:c.360+1C>T,NM_001114753:exon3:c.360+1C>T | . | . | 9q34.11 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.367 | 24.1 | 0.991 | 0.941 | D | . | . | . | . | 0.140 | 0 | 4.88 | 0.824 | 0.934 | 0.940 | 0.900 | 13.934 | Deleterious (FATHMM) |
| 739 | 9 | 130470877 | G | A | Pathogenic/Likely pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130470877 | 130470877 | G | A | exonic | ASS1 | . | nonsynonymous SNV | ASS1:NM_054012:exon7:c.G539A:p.S180N,ASS1:NM_000050:exon8:c.G539A:p.S180N | 9q34.11 | . | rs121908638 | 0.024 | D | 0.99 | D | 0.904 | P | 0.000 | U | 1.000 | A | 4.445 | H | -6.16 | D | -2.6 | D | 0.54 | 2.899 | 21.8 | 0.985 | 0.928 | D | 1.003 | D | 0.990 | D | 0.696 | 0 | 3.34 | 0.917 | 1.048 | 0.997 | 0.964 | 12.221 | Deleterious |
| 740 | 9 | 130480398 | G | A | Pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130480398 | 130480398 | G | A | exonic | ASS1 | . | nonsynonymous SNV | ASS1:NM_054012:exon11:c.G787A:p.V263M,ASS1:NM_000050:exon12:c.G787A:p.V263M | 9q34.11 | . | rs192838388 | 0.001 | D | 1.0 | D | 0.976 | D | 0.000 | U | 1.000 | D | 3.26 | M | -5.87 | D | -2.44 | N | 0.897 | 6.012 | 27.9 | 0.999 | 0.932 | D | 1.027 | D | 0.985 | D | 0.696 | 0 | 4.7 | 0.917 | 1.048 | 0.897 | 0.878 | 16.978 | Deleterious |
| 741 | 9 | 130480405 | G | A | Pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130480405 | 130480405 | G | A | exonic | ASS1 | . | nonsynonymous SNV | ASS1:NM_054012:exon11:c.G794A:p.R265H,ASS1:NM_000050:exon12:c.G794A:p.R265H | 9q34.11 | . | rs398123131 | 0.021 | D | 0.964 | D | 0.339 | B | 0.000 | U | 1 | D | 3.375 | M | -5.98 | D | -4.76 | D | 0.944 | 3.797 | 23.4 | 0.999 | 0.946 | D | 1.119 | D | 0.969 | D | 0.696 | 0 | 4.7 | 0.917 | 1.048 | 0.944 | 0.962 | 16.978 | Deleterious |
| 742 | 9 | 130494926 | C | T | Pathogenic/Likely pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130494926 | 130494926 | C | T | exonic | ASS1 | . | stopgain | ASS1:NM_054012:exon13:c.C1030T:p.R344X,ASS1:NM_000050:exon14:c.C1030T:p.R344X | 9q34.11 | . | rs786204537 | . | . | . | . | . | . | 0.387 | U | 1 | A | . | . | . | . | . | . | . | 13.902 | 43 | 0.998 | 0.580 | D | . | . | . | . | 0.707 | 0 | 2.81 | -0.064 | 0.923 | 0.875 | 0.996 | 4.450 | Deleterious (FATHMM) |
| 743 | 9 | 130494983 | C | T | Pathogenic/Likely pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130494983 | 130494983 | C | T | exonic | ASS1 | . | nonsynonymous SNV | ASS1:NM_054012:exon13:c.C1087T:p.R363W,ASS1:NM_000050:exon14:c.C1087T:p.R363W | 9q34.11 | . | rs121908640 | 0.0 | D | 0.976 | D | 0.536 | P | 0.000 | U | 1 | A | 4.26 | H | -6.0 | D | -7.77 | D | 0.98 | 6.540 | 31 | 0.999 | 0.830 | D | 1.114 | D | 0.979 | D | 0.707 | 0 | 3.67 | 0.871 | 0.923 | 0.997 | 0.967 | 9.819 | Deleterious |
| 744 | 9 | 130499545 | G | A | Pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130499545 | 130499545 | G | A | exonic | ASS1 | . | nonsynonymous SNV | ASS1:NM_054012:exon14:c.G1168A:p.G390R,ASS1:NM_000050:exon15:c.G1168A:p.G390R | 9q34.11 | 0.0002 | rs121908641 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | A | 4.06 | H | -7.92 | D | -7.54 | D | 0.951 | 6.937 | 33 | 0.999 | 0.968 | D | 0.888 | D | 0.997 | D | 0.707 | 0 | 3.56 | 0.917 | 0.953 | 0.978 | 0.945 | 13.035 | Deleterious |
| 745 | 9 | 130500975 | G | C | Pathogenic/Likely pathogenic | ASS1 | . | . | . | . | . | . | . | . | . | . | 9 | 130500975 | 130500975 | G | C | splicing | ASS1 | NM_000050:exon16:c.1194-1G>C,NM_054012:exon15:c.1194-1G>C | . | . | 9q34.11 | . | rs727503814 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.794 | 24.7 | 0.995 | 0.972 | D | . | . | . | . | 0.383 | 0 | 4.72 | 0.917 | 0.902 | 1.000 | 1.000 | 16.616 | Deleterious (FATHMM) |
| 746 | 9 | 131510287 | C | T | Pathogenic | POMT1 | . | . | . | . | . | . | . | . | . | . | 9 | 131510287 | 131510287 | C | T | exonic | POMT1 | . | stopgain | POMT1:NM_001136114:exon7:c.C376T:p.R126X,POMT1:NM_001077366:exon8:c.C565T:p.R189X,POMT1:NM_001077365:exon9:c.C727T:p.R243X,POMT1:NM_001136113:exon9:c.C727T:p.R243X,POMT1:NM_007171:exon9:c.C793T:p.R265X | 9q34.13 | . | rs398124247 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 8.596 | 35 | 0.996 | 0.854 | D | . | . | . | . | 0.707 | 0 | 1.93 | -0.662 | -0.250 | 0.343 | 0.013 | 14.707 | Deleterious (FATHMM) |
| 747 | 9 | 131513243 | C | T | Pathogenic | POMT1 | . | . | . | . | . | . | . | . | . | . | 9 | 131513243 | 131513243 | C | T | exonic | POMT1 | . | stopgain | POMT1:NM_001136114:exon10:c.C736T:p.Q246X,POMT1:NM_001077366:exon11:c.C925T:p.Q309X,POMT1:NM_001077365:exon12:c.C1087T:p.Q363X,POMT1:NM_001136113:exon12:c.C1087T:p.Q363X,POMT1:NM_007171:exon12:c.C1153T:p.Q385X | 9q34.13 | . | rs200056620 | . | . | . | . | . | . | 0.002 | N | 1 | A | . | . | . | . | . | . | . | 10.986 | 37 | 0.998 | 0.936 | D | . | . | . | . | 0.719 | 0 | 4.26 | 0.871 | 0.935 | 0.976 | 0.900 | 13.667 | Deleterious (FATHMM) |
| 748 | 9 | 132903785 | C | T | Pathogenic | TSC1 | . | . | . | . | . | . | . | . | . | . | 9 | 132903785 | 132903785 | C | T | exonic | TSC1 | . | synonymous SNV | TSC1:NM_001162427:exon16:c.C1921A:p.R641R,TSC1:NM_000368:exon17:c.C2074A:p.R692R,TSC1:NM_001162426:exon17:c.C2071A:p.R691R | 9q34.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 749 | 9 | 132906053 | C | T | Pathogenic | TSC1 | . | . | . | . | . | . | . | . | . | . | 9 | 132906053 | 132906053 | C | T | exonic | TSC1 | . | synonymous SNV | TSC1:NM_001162427:exon14:c.C1372A:p.R458R,TSC1:NM_000368:exon15:c.C1525A:p.R509R,TSC1:NM_001162426:exon15:c.C1522A:p.R508R | 9q34.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 750 | 9 | 132911509 | C | T | Pathogenic | TSC1 | . | . | . | . | . | . | . | . | . | . | 9 | 132911509 | 132911509 | C | T | exonic | TSC1 | . | nonsynonymous SNV | TSC1:NM_001162427:exon9:c.C820A:p.Q274K,TSC1:NM_000368:exon10:c.C973A:p.Q325K,TSC1:NM_001162426:exon10:c.C973A:p.Q325K | 9q34.13 | . | . | 0.874 | T | 0.973 | D | 0.78 | P | 0.003 | N | 1 | D | 1.95 | M | -2.1 | D | -0.49 | N | 0.753 | 2.309 | 18.22 | 0.995 | 0.991 | D | 0.443 | D | 0.708 | D | 0.707 | 0 | 5.79 | 0.917 | 1.048 | 0.986 | 0.998 | 17.196 | Deleterious |
| 751 | 9 | 132921367 | C | T | Pathogenic | TSC1 | . | . | . | . | . | . | . | . | . | . | 9 | 132921367 | 132921367 | C | T | exonic | TSC1 | . | synonymous SNV | TSC1:NM_001162427:exon7:c.C580A:p.R194R,TSC1:NM_000368:exon8:c.C733A:p.R245R,TSC1:NM_001162426:exon8:c.C733A:p.R245R | 9q34.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 752 | 9 | 132921418 | C | T | Pathogenic | TSC1 | . | . | . | . | . | . | . | . | . | . | 9 | 132921418 | 132921418 | C | T | exonic | TSC1 | . | synonymous SNV | TSC1:NM_001162427:exon7:c.C529A:p.R177R,TSC1:NM_000368:exon8:c.C682A:p.R228R,TSC1:NM_001162426:exon8:c.C682A:p.R228R | 9q34.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 753 | 9 | 133636712 | T | C | Pathogenic | DBH | . | . | . | . | . | . | . | . | . | . | 9 | 133636712 | 133636712 | T | C | splicing | DBH | NM_000787:exon1:c.339+2T>C | . | . | 9q34.2 | 0.0009 | rs74853476 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.386 | 23.0 | 0.992 | 0.956 | D | . | . | . | . | 0.057 | 0 | 5.24 | 0.991 | 1.058 | 0.856 | 0.045 | 15.138 | Deleterious (FATHMM) |
| 754 | 10 | 252459 | C | T | Pathogenic | ZMYND11 | . | . | . | . | . | . | . | . | . | . | 10 | 252459 | 252459 | C | T | exonic | ZMYND11 | . | nonsynonymous SNV | ZMYND11:NM_001202465:exon13:c.C1543T:p.R515W,ZMYND11:NM_001202464:exon14:c.C1636T:p.R546W,ZMYND11:NM_001202466:exon14:c.C1633T:p.R545W,ZMYND11:NM_006624:exon15:c.C1798T:p.R600W | 10p15.3 | . | rs797044854 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | . | . | 2.745 | M | . | . | -4.52 | D | 0.753 | 7.451 | 34 | 0.999 | 0.969 | D | 0.127 | D | 0.455 | T | 0.706 | 0 | 4.32 | 0.871 | 0.870 | 1.000 | 0.998 | 13.478 | Tolerated |
| 755 | 10 | 14945110 | C | T | Pathogenic | DCLRE1C | . | . | . | . | . | . | . | . | . | . | 10 | 14945110 | 14945110 | C | T | exonic | DCLRE1C | . | synonymous SNV | DCLRE1C:NM_001033855:exon3:c.C241A:p.R81R | 10p13 | . | rs121908156 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 756 | 10 | 27944296 | G | T | Pathogenic | ARMC4 | . | . | . | . | . | . | . | . | . | . | 10 | 27944296 | 27944296 | G | T | exonic | ARMC4 | . | nonsynonymous SNV | ARMC4:NM_001290021:exon5:c.G244A:p.E82K,ARMC4:NM_001312689:exon7:c.G745A:p.E249K,ARMC4:NM_001290020:exon12:c.G1669A:p.E557K,ARMC4:NM_018076:exon12:c.G1669A:p.E557K | 10p12.1 | 0.0002 | rs145742175 | 0.033 | D | 1.0 | D | 0.973 | D | 0.000 | D | 1 | D | 3.015 | M | 0.78 | T | -3.69 | D | 0.947 | 6.416 | 29.7 | 0.999 | 0.941 | D | -0.423 | T | 0.356 | T | 0.638 | 0 | 5.34 | 0.871 | 0.887 | 0.991 | 0.743 | 19.394 | Tolerated |
| 757 | 10 | 43113622 | G | A | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43113622 | 43113622 | G | A | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon10:c.G1826A:p.C609Y,RET:NM_020975:exon10:c.G1826A:p.C609Y | 10q11.21 | . | rs77939446 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 2.8 | M | -2.67 | D | -8.69 | D | 0.996 | 5.156 | 25.4 | 0.994 | 0.949 | D | 0.951 | D | 0.992 | D | 0.696 | 0 | 4.92 | 0.917 | 1.048 | 0.985 | 0.393 | 16.727 | Deleterious |
| 758 | 10 | 43113648 | T | C | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43113648 | 43113648 | T | C | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon10:c.T1852C:p.C618R,RET:NM_020975:exon10:c.T1852C:p.C618R | 10q11.21 | . | rs76262710 | 0.019 | D | 0.976 | D | 0.938 | D | 0.000 | D | 1 | D | 2.78 | M | -2.63 | D | -5.54 | D | 0.985 | 5.325 | 25.8 | 0.997 | 0.971 | D | 1.088 | D | 0.977 | D | 0.696 | 0 | 4.92 | 0.991 | 1.061 | 1.000 | 0.994 | 13.425 | Deleterious |
| 759 | 10 | 43113648 | T | G | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43113648 | 43113648 | T | G | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon10:c.T1852G:p.C618G,RET:NM_020975:exon10:c.T1852G:p.C618G | 10q11.21 | . | rs76262710 | 0.007 | D | 0.976 | D | 0.882 | P | 0.000 | D | 1 | D | 2.78 | M | -2.61 | D | -6.95 | D | 0.99 | 5.095 | 25.3 | 0.979 | 0.975 | D | 1.078 | D | 0.975 | D | 0.696 | 0 | 4.92 | 0.991 | 1.061 | 1.000 | 0.994 | 13.425 | Deleterious |
| 760 | 10 | 43113649 | G | C | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43113649 | 43113649 | G | C | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon10:c.G1853C:p.C618S,RET:NM_020975:exon10:c.G1853C:p.C618S | 10q11.21 | . | rs79781594 | 0.028 | D | 0.976 | D | 0.882 | P | 0.000 | D | 1 | A | 2.78 | M | -2.58 | D | -5.7 | D | 0.983 | 3.521 | 23.1 | 0.994 | 0.986 | D | 1.077 | D | 0.977 | D | 0.696 | 0 | 4.92 | 0.917 | 1.048 | 1.000 | 0.997 | 16.727 | Deleterious |
| 761 | 10 | 43113654 | T | C | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43113654 | 43113654 | T | C | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon10:c.T1858C:p.C620R,RET:NM_020975:exon10:c.T1858C:p.C620R | 10q11.21 | . | rs77316810 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 2.78 | M | -2.49 | D | -5.44 | D | 0.994 | 5.330 | 25.8 | 0.997 | 0.951 | D | 1.092 | D | 0.977 | D | 0.696 | 0 | 4.92 | 0.991 | 1.061 | 0.999 | 0.996 | 13.425 | Deleterious |
| 762 | 10 | 43113655 | G | T | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43113655 | 43113655 | G | T | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon10:c.G1859T:p.C620F,RET:NM_020975:exon10:c.G1859T:p.C620F | 10q11.21 | . | rs77503355 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.78 | M | -2.48 | D | -6.73 | D | 0.993 | 5.869 | 27.4 | 0.993 | 0.985 | D | 1.068 | D | 0.980 | D | 0.696 | 0 | 4.92 | 0.917 | 1.048 | 0.998 | 0.995 | 16.727 | Deleterious |
| 763 | 10 | 43114500 | T | C | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43114500 | 43114500 | T | C | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon11:c.T1900C:p.C634R,RET:NM_020975:exon11:c.T1900C:p.C634R | 10q11.21 | . | rs75076352 | 0.002 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.47 | M | -1.24 | T | -5.8 | D | 0.986 | 3.753 | 23.3 | 0.997 | 0.946 | D | 1.084 | D | 0.976 | D | 0.696 | 0 | 4.52 | 0.991 | 1.061 | 0.844 | 0.802 | 14.041 | Deleterious |
| 764 | 10 | 43114501 | G | A | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43114501 | 43114501 | G | A | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon11:c.G1901A:p.C634Y,RET:NM_020975:exon11:c.G1901A:p.C634Y | 10q11.21 | . | rs75996173 | 0.026 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.47 | M | -1.27 | T | -6.95 | D | 0.997 | 3.715 | 23.3 | 0.997 | 0.957 | D | 1.095 | D | 0.976 | D | 0.696 | 0 | 3.61 | 0.917 | 1.048 | 0.843 | 0.822 | 14.049 | Deleterious |
| 765 | 10 | 43118458 | G | T | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43118458 | 43118458 | G | T | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon13:c.G2370T:p.L790F,RET:NM_020975:exon13:c.G2370T:p.L790F | 10q11.21 | . | rs75030001 | 0.003 | D | 1.0 | D | 0.992 | D | 0.000 | D | 1.000 | D | 0.95 | L | -2.87 | D | -3.66 | D | 0.897 | 5.093 | 25.3 | 0.999 | 0.696 | D | 0.147 | D | 0.671 | D | 0.706 | 0 | 0.958 | -0.044 | 1.048 | 0.969 | 0.996 | 4.777 | Deleterious |
| 766 | 10 | 43119548 | G | A | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43119548 | 43119548 | G | A | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon14:c.G2410A:p.V804M,RET:NM_020975:exon14:c.G2410A:p.V804M | 10q11.21 | 7.8e-05 | rs79658334 | 0.028 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | -1.36 | N | -2.2 | D | -2.23 | N | 0.955 | 5.658 | 26.7 | 0.998 | 0.992 | D | 0.475 | D | 0.497 | T | 0.646 | 0 | 5.36 | 0.917 | 0.998 | 0.995 | 0.995 | 19.077 | Tolerated |
| 767 | 10 | 43120144 | T | G | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43120144 | 43120144 | T | G | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon15:c.T2671G:p.S891A,RET:NM_020975:exon15:c.T2671G:p.S891A | 10q11.21 | . | rs75234356 | 0.11 | T | 0.998 | D | 0.998 | D | 0.000 | D | 1 | A | -0.09 | N | -1.64 | D | -2.79 | D | 0.918 | 5.797 | 27.1 | 0.997 | 0.968 | D | 0.145 | D | 0.492 | T | 0.696 | 0 | 5.58 | 0.991 | 1.061 | 0.979 | 0.976 | 15.752 | Tolerated |
| 768 | 10 | 43121968 | T | C | Pathogenic | RET | . | . | . | . | . | . | . | . | . | . | 10 | 43121968 | 43121968 | T | C | exonic | RET | . | nonsynonymous SNV | RET:NM_020630:exon16:c.T2753C:p.M918T,RET:NM_020975:exon16:c.T2753C:p.M918T | 10q11.21 | . | rs74799832 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 1.63 | L | -2.68 | D | -5.47 | D | 0.981 | 6.098 | 28.2 | 0.993 | 0.983 | D | 0.776 | D | 0.799 | D | 0.706 | 0 | 5.43 | 0.991 | 1.061 | 1.000 | 1.000 | 15.777 | Deleterious |
| 769 | 10 | 49472472 | A | G | Pathogenic | ERCC6 | . | . | . | . | . | . | . | . | . | . | 10 | 49472472 | 49472472 | A | G | splicing | ERCC6 | NM_000124:exon16:c.2830-2T>C | . | . | 10q11.23 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.127 | 23.8 | 0.993 | 0.988 | D | . | . | . | . | 0.099 | 0 | 5.46 | 0.938 | 1.061 | 0.813 | 0.756 | 15.824 | Deleterious (FATHMM) |
| 770 | 10 | 49478437 | C | T | Pathogenic | ERCC6 | . | . | . | . | . | . | . | . | . | . | 10 | 49478437 | 49478437 | C | T | exonic | ERCC6 | . | synonymous SNV | ERCC6:NM_000124:exon11:c.C2203A:p.R735R | 10q11.23 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 771 | 10 | 49482689 | C | T | Pathogenic | ERCC6 | . | . | . | . | . | . | . | . | . | . | 10 | 49482689 | 49482689 | C | T | exonic | ERCC6 | . | nonsynonymous SNV | ERCC6:NM_000124:exon10:c.C2167A:p.Q723K | 10q11.23 | . | . | 0.0 | D | 0.972 | D | 0.794 | P | . | . | 1 | D | 2.475 | M | -3.19 | D | -3.63 | D | 0.773 | 4.799 | 24.8 | 0.993 | 0.996 | D | 0.916 | D | 0.871 | D | 0.707 | 0 | 5.81 | 0.917 | 1.048 | 1.000 | 0.986 | 18.243 | Deleterious |
| 772 | 10 | 49505883 | G | T | Pathogenic | ERCC6 | . | . | . | . | . | . | . | . | . | . | 10 | 49505883 | 49505883 | G | T | splicing | ERCC6 | NM_000124:exon6:c.1526+1C>A | . | . | 10q11.23 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.561 | 26.4 | 0.995 | 0.996 | D | . | . | . | . | 0.162 | 0 | 6.07 | 0.871 | 0.935 | 0.992 | 0.996 | 18.840 | Deleterious (FATHMM) |
| 773 | 10 | 49530797 | C | T | Pathogenic/Likely pathogenic | ERCC6|ERCC6-PGBD3 | . | . | . | . | . | . | . | . | . | . | 10 | 49530797 | 49530797 | C | T | exonic | ERCC6,ERCC6-PGBD3 | . | nonsynonymous SNV | ERCC6:NM_000124:exon3:c.C466A:p.Q156K,ERCC6-PGBD3:NM_001277058:exon3:c.C466A:p.Q156K,ERCC6-PGBD3:NM_001277059:exon3:c.C466A:p.Q156K | 10q11.23 | . | . | 0.121 | T | 0.996 | D | 0.874 | P | . | . | 1 | D | 2.045 | M | 3.21 | T | -1.26 | N | 0.365 | 6.179 | 28.6 | 0.996 | 0.997 | D | 0.110 | D | 0.642 | D | 0.732 | 0 | 5.31 | 0.917 | 1.048 | 0.994 | 0.999 | 18.577 | Deleterious |
| 774 | 10 | 51467819 | G | A | Pathogenic | PRKG1 | . | . | . | . | . | . | . | . | . | . | 10 | 51467819 | 51467819 | G | A | exonic | PRKG1 | . | nonsynonymous SNV | PRKG1:NM_001098512:exon3:c.G530A:p.R177Q,PRKG1:NM_006258:exon3:c.G575A:p.R192Q | 10q21.1 | . | rs397515330 | 0.001 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 4.64 | H | -2.38 | D | -3.56 | D | 0.839 | 7.926 | 35 | 1.000 | 0.990 | D | 1.048 | D | 0.979 | D | 0.638 | 0 | 5.79 | 0.917 | 1.048 | 1.000 | 0.994 | 17.517 | Deleterious |
| 775 | 10 | 53938872 | C | T | Pathogenic/Likely pathogenic | PCDH15 | . | . | . | . | . | . | . | . | . | . | 10 | 53938872 | 53938872 | C | T | exonic | PCDH15 | . | synonymous SNV | PCDH15:NM_001142765:exon23:c.C3103A:p.R1035R,PCDH15:NM_001142767:exon24:c.C3205A:p.R1069R,PCDH15:NM_001142768:exon24:c.C3250A:p.R1084R,PCDH15:NM_001142773:exon24:c.C3250A:p.R1084R,PCDH15:NM_001142764:exon25:c.C3316A:p.R1106R,PCDH15:NM_001142766:exon25:c.C3316A:p.R1106R,PCDH15:NM_033056:exon25:c.C3316A:p.R1106R,PCDH15:NM_001142763:exon26:c.C3331A:p.R1111R | 10q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 776 | 10 | 54317414 | C | T | Pathogenic | PCDH15 | . | . | . | . | . | . | . | . | . | . | 10 | 54317414 | 54317414 | C | T | exonic | PCDH15 | . | synonymous SNV | PCDH15:NM_001142767:exon7:c.C622A:p.R208R,PCDH15:NM_001142768:exon7:c.C667A:p.R223R,PCDH15:NM_001142773:exon7:c.C667A:p.R223R,PCDH15:NM_001142764:exon8:c.C733A:p.R245R,PCDH15:NM_001142765:exon8:c.C733A:p.R245R,PCDH15:NM_001142766:exon8:c.C733A:p.R245R,PCDH15:NM_033056:exon8:c.C733A:p.R245R,PCDH15:NM_001142763:exon9:c.C748A:p.R250R | 10q21.1 | . | rs111033260 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 777 | 10 | 71779316 | G | A | Pathogenic | CDH23 | . | . | . | . | . | . | . | . | . | . | 10 | 71779316 | 71779316 | G | A | exonic | CDH23 | . | nonsynonymous SNV | CDH23:NM_022124:exon39:c.G5237A:p.R1746Q | 10q22.1 | 0.0002 | rs111033270 | . | . | 0.624 | P | 0.156 | B | 0.000 | D | 0.999 | A | 1.04 | L | . | . | . | . | 0.958 | 5.987 | 27.8 | 1.000 | 0.967 | D | -0.992 | T | 0.075 | T | 0.497 | 0 | 4.88 | 0.917 | 1.048 | 0.998 | 0.999 | 11.665 | Tolerated |
| 778 | 10 | 71791123 | G | A | Pathogenic | CDH23 | . | . | . | . | . | . | . | . | . | . | 10 | 71791123 | 71791123 | G | A | intronic | CDH23 | . | . | . | 10q22.1 | 7.8e-05 | rs367928692 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 779 | 10 | 86876019 | A | G | Pathogenic/Likely pathogenic | BMPR1A | . | . | . | . | . | . | . | . | . | . | 10 | 86876019 | 86876019 | A | G | exonic | BMPR1A | . | nonsynonymous SNV | BMPR1A:NM_004329:exon3:c.A1G:p.M1V | 10q23.2 | . | rs786203157 | 0.0 | D | 0.0 | B | 0.0 | B | 0.000 | D | 1 | D | . | . | -1.54 | D | -0.29 | N | 0.945 | 1.160 | 11.53 | 0.975 | 0.945 | D | -0.393 | T | 0.390 | T | 0.732 | 0 | 5.3 | 1.062 | 1.007 | 0.990 | 0.891 | 13.780 | Tolerated |
| 780 | 10 | 86917140 | C | T | Pathogenic | BMPR1A | . | . | . | . | . | . | . | . | . | . | 10 | 86917140 | 86917140 | C | T | exonic | BMPR1A | . | stopgain | BMPR1A:NM_004329:exon9:c.C682T:p.R228X | 10q23.2 | . | rs587782682 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.523 | 46 | 0.998 | 0.970 | D | . | . | . | . | 0.563 | 0 | 5.63 | 0.871 | 0.935 | 0.999 | 1.000 | 20.040 | Deleterious (FATHMM) |
| 781 | 10 | 86917275 | C | T | Pathogenic | BMPR1A | . | . | . | . | . | . | . | . | . | . | 10 | 86917275 | 86917275 | C | T | exonic | BMPR1A | . | stopgain | BMPR1A:NM_004329:exon9:c.C817T:p.R273X | 10q23.2 | . | rs587782400 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.054 | 41 | 0.998 | 0.897 | D | . | . | . | . | 0.563 | 0 | 4.85 | -0.022 | 0.020 | 0.995 | 0.999 | 15.136 | Deleterious (FATHMM) |
| 782 | 10 | 87057692 | C | T | Pathogenic | GLUD1 | . | . | . | . | . | . | . | . | . | . | 10 | 87057692 | 87057692 | C | T | exonic | GLUD1 | . | stopgain | GLUD1:NM_005271:exon11:c.C1493A:p.S498X | 10q23.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.834 | 48 | 0.997 | 0.993 | D | . | . | . | . | 0.707 | 0 | 4.98 | 0.917 | 0.993 | 0.993 | 1.000 | 18.657 | Deleterious (FATHMM) |
| 783 | 10 | 87864517 | T | A | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87864517 | 87864517 | T | A | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon1:c.T48A:p.Y16X,PTEN:NM_001304717:exon2:c.T567A:p.Y189X | 10q23.31 | . | rs587782187 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 7.682 | 35 | 0.996 | 0.652 | D | . | . | . | . | 0.733 | 0 | 0.362 | 0.011 | 0.090 | 0.999 | 1.000 | 8.698 | Deleterious (FATHMM) |
| 784 | 10 | 87864518 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87864518 | 87864518 | C | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon1:c.C49T:p.Q17X,PTEN:NM_001304717:exon2:c.C568T:p.Q190X | 10q23.31 | . | rs786204910 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.393 | 36 | 0.998 | 0.927 | D | . | . | . | . | 0.733 | 0 | 5.05 | 0.791 | 0.855 | 0.999 | 1.000 | 17.161 | Deleterious (FATHMM) |
| 785 | 10 | 87864540 | A | G | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87864540 | 87864540 | A | G | exonic | PTEN | . | nonsynonymous SNV | PTEN:NM_000314:exon1:c.A71G:p.D24G,PTEN:NM_001304717:exon2:c.A590G:p.D197G | 10q23.31 | . | rs797044910 | 0.0 | D | 0.539 | P | 0.193 | B | 0.000 | D | 1 | D | 3.99 | H | -5.18 | D | -6.02 | D | 0.992 | 5.426 | 26.1 | 0.998 | 0.948 | D | 1.095 | D | 0.957 | D | 0.628 | 0 | 5.28 | 0.960 | 1.091 | 1.000 | 1.000 | 14.181 | Deleterious |
| 786 | 10 | 87925512 | G | A | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87925512 | 87925512 | G | A | splicing | PTEN | NM_000314:exon3:c.165-1G>A,NM_001304717:exon4:c.684-1G>A | . | . | 10q23.31 | . | rs786203847 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.426 | 26.1 | 0.995 | 0.994 | D | . | . | . | . | 0.295 | 0 | 5.45 | 0.917 | 1.048 | 1.000 | 1.000 | 19.279 | Deleterious (FATHMM) |
| 787 | 10 | 87933147 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87933147 | 87933147 | C | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon5:c.C388T:p.R130X,PTEN:NM_001304717:exon6:c.C907T:p.R303X | 10q23.31 | . | rs121909224 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.360 | 39 | 0.998 | 0.946 | D | . | . | . | . | 0.722 | 0 | 5.22 | 0.871 | 0.852 | 1.000 | 1.000 | 18.778 | Deleterious (FATHMM) |
| 788 | 10 | 87933148 | G | A | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87933148 | 87933148 | G | A | exonic | PTEN | . | nonsynonymous SNV | PTEN:NM_000314:exon5:c.G389A:p.R130Q,PTEN:NM_001304717:exon6:c.G908A:p.R303Q | 10q23.31 | . | rs121909229 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | A | 3.9 | H | -4.88 | D | -3.86 | D | 0.984 | 7.065 | 33 | 1.000 | 0.985 | D | 1.062 | D | 0.978 | D | 0.722 | 0 | 5.22 | 0.917 | 0.953 | 0.998 | 1.000 | 18.778 | Deleterious |
| 789 | 10 | 87933165 | T | C | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87933165 | 87933165 | T | C | exonic | PTEN | . | nonsynonymous SNV | PTEN:NM_000314:exon5:c.T406C:p.C136R,PTEN:NM_001304717:exon6:c.T925C:p.C309R | 10q23.31 | . | rs786201044 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.85 | H | -5.11 | D | -9.91 | D | 0.989 | 5.205 | 25.5 | 0.997 | 0.970 | D | 1.051 | D | 0.980 | D | 0.722 | 0 | 5.22 | 0.991 | 0.964 | 0.999 | 1.000 | 15.102 | Deleterious |
| 790 | 10 | 87933166 | G | A | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87933166 | 87933166 | G | A | exonic | PTEN | . | nonsynonymous SNV | PTEN:NM_000314:exon5:c.G407A:p.C136Y,PTEN:NM_001304717:exon6:c.G926A:p.C309Y | 10q23.31 | . | rs786204859 | 0.008 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.85 | H | -5.11 | D | -8.88 | D | 0.987 | 5.668 | 26.7 | 0.998 | 0.985 | D | 1.044 | D | 0.982 | D | 0.722 | 0 | 5.22 | 0.917 | 0.953 | 1.000 | 1.000 | 18.778 | Deleterious |
| 791 | 10 | 87952116 | A | G | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87952116 | 87952116 | A | G | splicing | PTEN | NM_000314:exon6:c.493-2A>G,NM_001304717:exon7:c.1012-2A>G | . | . | 10q23.31 | . | rs587781784 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.752 | 24.7 | 0.995 | 0.963 | D | . | . | . | . | 0.257 | 0 | 5.74 | 1.062 | 1.140 | 0.905 | 0.999 | 16.045 | Deleterious (FATHMM) |
| 792 | 10 | 87952136 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87952136 | 87952136 | C | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon6:c.C511T:p.Q171X,PTEN:NM_001304717:exon7:c.C1030T:p.Q344X | 10q23.31 | . | rs786204864 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.073 | 41 | 0.998 | 0.950 | D | . | . | . | . | 0.722 | 0 | 5.74 | 0.871 | 0.892 | 1.000 | 1.000 | 19.931 | Deleterious (FATHMM) |
| 793 | 10 | 87952142 | C | T | Pathogenic/Likely pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87952142 | 87952142 | C | T | exonic | PTEN | . | nonsynonymous SNV | PTEN:NM_000314:exon6:c.C517T:p.R173C,PTEN:NM_001304717:exon7:c.C1036T:p.R346C | 10q23.31 | . | rs121913293 | 0.0 | D | 1.0 | D | 0.966 | D | 0.000 | D | 1 | D | 3.8 | H | -5.24 | D | -7.16 | D | 0.974 | 7.686 | 35 | 0.999 | 0.951 | D | 1.058 | D | 0.981 | D | 0.722 | 0 | 5.74 | 0.871 | 0.892 | 1.000 | 1.000 | 19.931 | Deleterious |
| 794 | 10 | 87957915 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87957915 | 87957915 | C | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon7:c.C697T:p.R233X,PTEN:NM_001304718:exon7:c.C106T:p.R36X,PTEN:NM_001304717:exon8:c.C1216T:p.R406X | 10q23.31 | . | rs121909219 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.451 | 37 | 0.997 | 0.815 | D | . | . | . | . | 0.719 | 0 | 0.533 | -0.058 | 0.807 | 0.993 | 0.999 | 14.484 | Deleterious (FATHMM) |
| 795 | 10 | 87957955 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87957955 | 87957955 | C | T | exonic | PTEN | . | nonsynonymous SNV | PTEN:NM_000314:exon7:c.C737T:p.P246L,PTEN:NM_001304718:exon7:c.C146T:p.P49L,PTEN:NM_001304717:exon8:c.C1256T:p.P419L | 10q23.31 | . | rs587782350 | 0.014 | D | 0.728 | P | 0.116 | B | 0.000 | D | 1 | D | 2.19 | M | -2.06 | D | -5.84 | D | 0.947 | 4.127 | 23.8 | 0.989 | 0.975 | D | 0.024 | D | 0.511 | D | 0.719 | 0 | 5.15 | 0.871 | 0.807 | 0.997 | 0.990 | 18.616 | Deleterious |
| 796 | 10 | 87960892 | A | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87960892 | 87960892 | A | T | splicing | PTEN | NM_000314:exon8:c.802-2A>T,NM_001304717:exon9:c.1321-2A>T,NM_001304718:exon8:c.211-2A>T | . | . | 10q23.31 | . | rs587782455 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.206 | 23.9 | 0.995 | 0.997 | D | . | . | . | . | 0.089 | 0 | 5.13 | 1.062 | 1.140 | 0.983 | 0.986 | 14.923 | Deleterious (FATHMM) |
| 797 | 10 | 87960984 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87960984 | 87960984 | C | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon8:c.C892T:p.Q298X,PTEN:NM_001304718:exon8:c.C301T:p.Q101X,PTEN:NM_001304717:exon9:c.C1411T:p.Q471X | 10q23.31 | . | rs371387815 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.152 | 38 | 0.998 | 0.976 | D | . | . | . | . | 0.732 | 0 | 5.13 | 0.871 | 0.892 | 1.000 | 1.000 | 18.563 | Deleterious (FATHMM) |
| 798 | 10 | 87961056 | A | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87961056 | 87961056 | A | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon8:c.A964T:p.K322X,PTEN:NM_001304718:exon8:c.A373T:p.K125X,PTEN:NM_001304717:exon9:c.A1483T:p.K495X | 10q23.31 | . | rs786202004 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.466 | 42 | 0.996 | 0.970 | D | . | . | . | . | 0.707 | 0 | 5.37 | 1.062 | 1.140 | 0.991 | 1.000 | 15.354 | Deleterious (FATHMM) |
| 799 | 10 | 87961095 | C | T | Pathogenic | PTEN | . | . | . | . | . | . | . | . | . | . | 10 | 87961095 | 87961095 | C | T | exonic | PTEN | . | stopgain | PTEN:NM_000314:exon8:c.C1003T:p.R335X,PTEN:NM_001304718:exon8:c.C412T:p.R138X,PTEN:NM_001304717:exon9:c.C1522T:p.R508X | 10q23.31 | . | rs121909231 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.828 | 40 | 0.998 | 0.903 | D | . | . | . | . | 0.707 | 0 | 4.39 | -0.058 | 0.892 | 0.999 | 1.000 | 12.825 | Deleterious (FATHMM) |
| 800 | 10 | 88941309 | G | A | Pathogenic | ACTA2 | . | . | . | . | . | . | . | . | . | . | 10 | 88941309 | 88941309 | G | A | exonic | ACTA2 | . | nonsynonymous SNV | ACTA2:NM_001141945:exon6:c.G536T:p.R179L,ACTA2:NM_001613:exon6:c.G536T:p.R179L | 10q23.31 | . | . | . | . | 0.903 | P | 0.837 | P | 0.000 | D | 1 | D | 4.455 | H | -3.6 | D | -5.61 | D | 0.984 | 7.913 | 35 | 0.997 | 0.982 | D | 1.089 | D | 0.949 | D | 0.732 | 0 | 5.86 | 0.871 | 0.935 | 1.000 | 0.999 | 18.742 | Deleterious |
| 801 | 10 | 88943813 | G | A | Pathogenic/Likely pathogenic | ACTA2 | . | . | . | . | . | . | . | . | . | . | 10 | 88943813 | 88943813 | G | A | exonic | ACTA2 | . | nonsynonymous SNV | ACTA2:NM_001141945:exon4:c.G353T:p.R118L,ACTA2:NM_001613:exon4:c.G353T:p.R118L | 10q23.31 | . | . | . | . | 0.97 | D | 0.983 | D | 0.000 | D | 1 | D | 4.575 | H | -4.23 | D | -5.52 | D | 0.97 | 8.030 | 35 | 0.997 | 0.986 | D | 1.059 | D | 0.975 | D | 0.707 | 0 | 5.86 | 0.871 | 0.935 | 0.999 | 0.998 | 18.742 | Deleterious |
| 802 | 10 | 99832069 | C | T | Pathogenic/Likely pathogenic | ABCC2 | . | . | . | . | . | . | . | . | . | . | 10 | 99832069 | 99832069 | C | T | exonic | ABCC2 | . | stopgain | ABCC2:NM_000392:exon23:c.C3196T:p.R1066X | 10q24.2 | 0.0010 | rs72558199 | . | . | . | . | . | . | 0.037 | N | 1 | A | . | . | . | . | . | . | . | 12.703 | 40 | 0.997 | 0.158 | N | . | . | . | . | 0.554 | 0 | 4.84 | 0.868 | 0.890 | 0.937 | 0.804 | 15.649 | Deleterious (DANN) |
| 803 | 10 | 110812298 | G | A | Pathogenic | RBM20 | . | . | . | . | . | . | . | . | . | . | 10 | 110812298 | 110812298 | G | A | exonic | RBM20 | . | nonsynonymous SNV | RBM20:NM_001134363:exon9:c.G1901A:p.R634Q | 10q25.2 | . | rs267607001 | 0.0 | D | 1.0 | D | 0.998 | D | 0.023 | N | 1.000 | D | 1.79 | L | -3.31 | D | -1.52 | N | 0.774 | 5.844 | 27.3 | 0.999 | 0.970 | D | 0.899 | D | 0.875 | D | 0.554 | 0 | 5.69 | 0.917 | 1.048 | 0.955 | 0.227 | 19.805 | Deleterious |
| 804 | 10 | 110812303 | C | A | Pathogenic/Likely pathogenic | RBM20 | . | . | . | . | . | . | . | . | . | . | 10 | 110812303 | 110812303 | C | A | exonic | RBM20 | . | nonsynonymous SNV | RBM20:NM_001134363:exon9:c.C1906A:p.R636S | 10q25.2 | . | rs267607002 | 0.0 | D | 1.0 | D | 0.999 | D | 0.002 | N | 1 | D | 1.79 | L | -3.52 | D | -3.02 | D | 0.863 | 6.219 | 28.8 | 0.997 | 0.955 | D | 0.894 | D | 0.891 | D | 0.554 | 0 | 5.69 | 0.871 | 0.935 | 0.992 | 0.218 | 19.805 | Deleterious |
| 805 | 10 | 110812304 | G | A | Pathogenic/Likely pathogenic | RBM20 | . | . | . | . | . | . | . | . | . | . | 10 | 110812304 | 110812304 | G | A | exonic | RBM20 | . | nonsynonymous SNV | RBM20:NM_001134363:exon9:c.G1907A:p.R636H | 10q25.2 | . | rs267607004 | 0.0 | D | 1.0 | D | 0.999 | D | 0.002 | N | 1 | D | 1.79 | L | -3.54 | D | -2.8 | D | 0.797 | 6.116 | 28.3 | 0.999 | 0.973 | D | 0.972 | D | 0.894 | D | 0.554 | 0 | 5.69 | 0.917 | 1.048 | 0.990 | 0.225 | 19.805 | Deleterious |
| 806 | 10 | 110812310 | C | T | Pathogenic | RBM20 | . | . | . | . | . | . | . | . | . | . | 10 | 110812310 | 110812310 | C | T | exonic | RBM20 | . | nonsynonymous SNV | RBM20:NM_001134363:exon9:c.C1913T:p.P638L | 10q25.2 | . | rs267607003 | 0.0 | D | 1.0 | D | 0.999 | D | 0.001 | N | 1 | D | 1.79 | L | -3.13 | D | -6.18 | D | 0.869 | 6.036 | 28.0 | 0.999 | 0.961 | D | 0.858 | D | 0.853 | D | 0.554 | 0 | 5.69 | 0.871 | 0.935 | 0.996 | 0.219 | 19.805 | Deleterious |
| 807 | 10 | 110964362 | A | G | Pathogenic/Likely pathogenic, not provided | SHOC2 | . | . | . | . | . | . | . | . | . | . | 10 | 110964362 | 110964362 | A | G | exonic | SHOC2 | . | nonsynonymous SNV | SHOC2:NM_001269039:exon1:c.A4G:p.S2G,SHOC2:NM_007373:exon2:c.A4G:p.S2G | 10q25.2 | . | rs267607048 | 0.0 | D | 0.954 | P | 0.916 | D | 0.000 | D | 1.000 | D | 0 | N | 1.32 | T | -0.35 | N | 0.817 | 4.661 | 24.5 | 0.997 | 0.989 | D | -0.871 | T | 0.106 | T | 0.732 | 0 | 5.22 | 1.062 | 1.083 | 1.000 | 1.000 | 15.105 | Tolerated |
| 808 | 10 | 119670037 | C | T | Pathogenic/Likely pathogenic | BAG3 | . | . | . | . | . | . | . | . | . | . | 10 | 119670037 | 119670037 | C | T | exonic | BAG3 | . | stopgain | BAG3:NM_004281:exon2:c.C367T:p.R123X | 10q26.11 | . | rs387906875 | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 11.244 | 37 | 0.998 | 0.859 | D | . | . | . | . | 0.834 | 0 | 3.46 | 0.598 | 0.935 | 0.803 | 0.556 | 12.989 | Deleterious (FATHMM) |
| 809 | 10 | 121515263 | T | G | Pathogenic/Likely pathogenic | FGFR2 | . | . | . | . | . | . | . | . | . | . | 10 | 121515263 | 121515263 | T | G | exonic | FGFR2 | . | nonsynonymous SNV | FGFR2:NM_001144914:exon6:c.T805C:p.Y269H,FGFR2:NM_001144916:exon6:c.T796C:p.Y266H,FGFR2:NM_001144918:exon7:c.T796C:p.Y266H,FGFR2:NM_023029:exon7:c.T874C:p.Y292H,FGFR2:NM_001144913:exon8:c.T1144C:p.Y382H,FGFR2:NM_001144915:exon8:c.T874C:p.Y292H,FGFR2:NM_001144919:exon8:c.T877C:p.Y293H,FGFR2:NM_000141:exon9:c.T1141C:p.Y381H,FGFR2:NM_022970:exon9:c.T1144C:p.Y382H | 10q26.13 | . | . | 0.028 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 2.885 | M | -2.27 | D | -3.06 | D | 0.931 | 6.137 | 28.4 | 0.999 | 0.993 | D | 0.816 | D | 0.816 | D | 0.672 | 0 | 5.83 | 1.062 | 1.199 | 1.000 | 1.000 | 16.204 | Deleterious |
| 810 | 10 | 121515280 | A | G | Pathogenic | FGFR2 | . | . | . | . | . | . | . | . | . | . | 10 | 121515280 | 121515280 | A | G | exonic | FGFR2 | . | nonsynonymous SNV | FGFR2:NM_001144914:exon6:c.A788C:p.Y263S,FGFR2:NM_001144916:exon6:c.A779C:p.Y260S,FGFR2:NM_001144918:exon7:c.A779C:p.Y260S,FGFR2:NM_023029:exon7:c.A857C:p.Y286S,FGFR2:NM_001144913:exon8:c.A1127C:p.Y376S,FGFR2:NM_001144915:exon8:c.A857C:p.Y286S,FGFR2:NM_001144919:exon8:c.A860C:p.Y287S,FGFR2:NM_000141:exon9:c.A1124C:p.Y375S,FGFR2:NM_022970:exon9:c.A1127C:p.Y376S | 10q26.13 | . | . | 0.05 | D | 0.749 | P | 0.381 | B | 0.000 | D | 1 | D | 2.345 | M | -2.32 | D | -4.25 | D | 0.97 | 6.184 | 28.6 | 0.965 | 0.990 | D | 0.371 | D | 0.646 | D | 0.672 | 0 | 5.83 | 0.991 | 1.061 | 0.998 | 1.000 | 16.204 | Deleterious |
| 811 | 10 | 121520163 | C | G | Pathogenic | FGFR2 | . | . | . | . | . | . | . | . | . | . | 10 | 121520163 | 121520163 | C | G | exonic | FGFR2 | . | synonymous SNV | FGFR2:NM_001144916:exon4:c.C410C:p.S137S,FGFR2:NM_001144918:exon5:c.C410C:p.S137S,FGFR2:NM_023029:exon5:c.C488C:p.S163S,FGFR2:NM_001144913:exon6:c.C755C:p.S252S,FGFR2:NM_001144915:exon6:c.C488C:p.S163S,FGFR2:NM_001144919:exon6:c.C488C:p.S163S,FGFR2:NM_000141:exon7:c.C755C:p.S252S,FGFR2:NM_001144917:exon7:c.C755C:p.S252S,FGFR2:NM_022970:exon7:c.C755C:p.S252S | 10q26.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 812 | 10 | 125815061 | T | C | Pathogenic | UROS | . | . | . | . | . | . | . | . | . | . | 10 | 125815061 | 125815061 | T | C | exonic | UROS | . | nonsynonymous SNV | UROS:NM_000375:exon4:c.T217G:p.C73G | 10q26.2 | . | . | 0.024 | D | 0.896 | P | 0.822 | P | 0.000 | D | 1.000 | D | 1.895 | L | -2.99 | D | -5.56 | D | 0.658 | 3.512 | 23.1 | 0.935 | 0.792 | D | 0.532 | D | 0.782 | D | 0.732 | 0 | 2.96 | 1.062 | 1.199 | 0.835 | 0.945 | 8.643 | Deleterious |
| 813 | 11 | 533553 | A | G | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 533553 | 533553 | A | G | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon4:c.A350C:p.K117T,HRAS:NM_005343:exon4:c.A350C:p.K117T,HRAS:NM_176795:exon4:c.A350C:p.K117T | 11p15.5 | . | . | 0.0 | D | 0.999 | D | 0.988 | D | 0.000 | D | 1 | D | 5.03 | H | -2.31 | D | -5.35 | D | 0.956 | 5.924 | 27.6 | 0.998 | 0.991 | D | 0.997 | D | 0.894 | D | 0.722 | 0 | 4.08 | 0.991 | 1.061 | 0.996 | 1.000 | 12.54 | Deleterious |
| 814 | 11 | 533881 | G | A | Pathogenic/Likely pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 533881 | 533881 | G | A | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon3:c.G175T:p.A59S,HRAS:NM_005343:exon3:c.G175T:p.A59S,HRAS:NM_176795:exon3:c.G175T:p.A59S | 11p15.5 | . | . | 0.021 | D | 0.68 | P | 0.701 | P | 0.000 | D | 1 | D | 2.71 | M | -2.4 | D | -2.69 | D | 0.604 | 4.962 | 25.1 | 0.996 | 0.979 | D | 0.789 | D | 0.787 | D | 0.722 | 0 | 3.64 | 0.871 | 0.852 | 0.894 | 0.256 | 14.843 | Deleterious |
| 815 | 11 | 534285 | G | A | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534285 | 534285 | G | A | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon2:c.G38T:p.G13V,HRAS:NM_005343:exon2:c.G38T:p.G13V,HRAS:NM_176795:exon2:c.G38T:p.G13V | 11p15.5 | . | rs104894226 | 0.0 | D | 0.997 | D | 0.966 | D | 0.000 | D | 1 | D | 3.515 | H | -0.81 | T | -7.61 | D | 0.923 | 5.230 | 25.6 | 0.996 | 0.994 | D | 0.563 | D | 0.651 | D | 0.767 | 0 | 3.0 | 0.871 | 0.852 | 0.989 | 0.597 | 14.152 | Deleterious |
| 816 | 11 | 534286 | G | T | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534286 | 534286 | G | T | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon2:c.G37A:p.G13S,HRAS:NM_005343:exon2:c.G37A:p.G13S,HRAS:NM_176795:exon2:c.G37A:p.G13S | 11p15.5 | . | rs104894228 | 0.021 | D | 0.87 | P | 0.447 | P | 0.000 | D | 1 | D | 2.12 | M | -0.69 | T | -4.93 | D | 0.725 | 5.647 | 26.6 | 0.997 | 0.993 | D | -0.203 | T | 0.338 | T | 0.767 | 0 | 3.0 | 0.871 | 0.852 | 0.984 | 0.574 | 14.152 | Tolerated |
| 817 | 11 | 534288 | G | A | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534288 | 534288 | G | A | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon2:c.G35T:p.G12V,HRAS:NM_005343:exon2:c.G35T:p.G12V,HRAS:NM_176795:exon2:c.G35T:p.G12V | 11p15.5 | . | rs104894230 | 0.008 | D | 0.738 | P | 0.52 | P | 0.000 | D | 1 | D | 3.08 | M | -1.2 | T | -7.18 | D | 0.92 | 4.967 | 25.1 | 0.994 | 0.994 | D | 0.520 | D | 0.548 | D | 0.767 | 0 | 3.0 | 0.871 | 0.852 | 0.975 | 0.552 | 14.152 | Deleterious |
| 818 | 11 | 534288 | G | C | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534288 | 534288 | G | C | exonic | HRAS | . | synonymous SNV | HRAS:NM_001130442:exon2:c.G35G:p.G12G,HRAS:NM_005343:exon2:c.G35G:p.G12G,HRAS:NM_176795:exon2:c.G35G:p.G12G | 11p15.5 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 819 | 11 | 534288 | G | T | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534288 | 534288 | G | T | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon2:c.G35A:p.G12D,HRAS:NM_005343:exon2:c.G35A:p.G12D,HRAS:NM_176795:exon2:c.G35A:p.G12D | 11p15.5 | . | rs104894230 | 0.011 | D | 0.513 | P | 0.399 | B | 0.000 | D | 1 | D | 3.305 | M | -1.19 | T | -5.42 | D | 0.951 | 4.754 | 24.7 | 0.993 | 0.993 | D | 0.357 | D | 0.559 | D | 0.767 | 0 | 3.0 | 0.871 | 0.852 | 0.975 | 0.552 | 14.152 | Deleterious |
| 820 | 11 | 534289 | G | T | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534289 | 534289 | G | T | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon2:c.G34A:p.G12S,HRAS:NM_005343:exon2:c.G34A:p.G12S,HRAS:NM_176795:exon2:c.G34A:p.G12S | 11p15.5 | . | rs104894229 | 0.028 | D | 0.831 | P | 0.447 | P | 0.000 | D | 1 | D | 1.535 | L | -1.01 | T | -4.49 | D | 0.902 | 5.636 | 26.6 | 0.997 | 0.993 | D | -0.174 | T | 0.370 | T | 0.767 | 0 | 3.0 | 0.871 | 0.852 | 0.973 | 0.563 | 14.152 | Tolerated |
| 821 | 11 | 534289 | G | A | Pathogenic | HRAS|LRRC56 | . | . | . | . | . | . | . | . | . | . | 11 | 534289 | 534289 | G | A | exonic | HRAS | . | nonsynonymous SNV | HRAS:NM_001130442:exon2:c.G34T:p.G12C,HRAS:NM_005343:exon2:c.G34T:p.G12C,HRAS:NM_176795:exon2:c.G34T:p.G12C | 11p15.5 | . | rs104894229 | 0.009 | D | 0.682 | P | 0.448 | P | 0.000 | D | 1 | D | 2.83 | M | -1.24 | T | -7.22 | D | 0.932 | 5.765 | 27.0 | 0.995 | 0.994 | D | 0.438 | D | 0.512 | D | 0.767 | 0 | 3.0 | 0.871 | 0.852 | 0.973 | 0.563 | 14.152 | Deleterious |
| 822 | 11 | 1841523 | G | A | Pathogenic | TNNI2 | . | . | . | . | . | . | . | . | . | . | 11 | 1841523 | 1841523 | G | A | exonic | TNNI2 | . | nonsynonymous SNV | TNNI2:NM_001145841:exon6:c.G521A:p.R174Q | 11p15.5 | . | rs104894311 | 0.002 | D | 1.0 | D | 0.981 | D | 0.000 | D | 1.000 | A | 2.7 | M | -4.46 | D | -3.25 | D | 0.797 | 6.828 | 33 | 0.999 | 0.904 | D | 1.083 | D | 0.952 | D | 0.554 | 0 | 2.71 | 0.917 | 0.923 | 0.983 | 0.999 | 14.565 | Deleterious |
| 823 | 11 | 2570719 | G | A | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2570719 | 2570719 | G | A | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon3:c.G569A:p.R190Q,KCNQ1:NM_181798:exon3:c.G188A:p.R63Q | 11p15.5 | . | rs120074178 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.28 | M | -4.61 | D | -3.64 | D | 0.948 | 7.517 | 34 | 1.000 | 0.987 | D | 1.092 | D | 0.965 | D | 0.646 | 0 | 4.4 | 0.917 | 0.975 | 0.991 | 0.991 | 16.065 | Deleterious |
| 824 | 11 | 2571333 | G | A | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2571333 | 2571333 | G | A | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon4:c.G613A:p.V205M,KCNQ1:NM_181798:exon4:c.G232A:p.V78M | 11p15.5 | 7.7e-05 | rs151344631 | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.275 | M | -5.22 | D | -2.47 | N | 0.926 | 6.489 | 30 | 0.999 | 0.989 | D | 1.097 | D | 0.965 | D | 0.583 | 0 | 4.46 | 0.630 | 0.998 | 0.914 | 0.976 | 16.212 | Deleterious |
| 825 | 11 | 2572020 | C | T | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572020 | 2572020 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon5:c.C691T:p.R231C,KCNQ1:NM_181798:exon5:c.C310T:p.R104C | 11p15.5 | . | rs199473457 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.64 | H | -6.3 | D | -7.69 | D | 0.964 | 7.155 | 34 | 0.999 | 0.957 | D | 0.977 | D | 0.989 | D | 0.677 | 0 | 4.17 | 0.871 | 0.892 | 0.046 | 0.998 | 15.560 | Deleterious |
| 826 | 11 | 2572021 | G | A | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572021 | 2572021 | G | A | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon5:c.G692A:p.R231H,KCNQ1:NM_181798:exon5:c.G311A:p.R104H | 11p15.5 | . | rs199472709 | 0.0 | D | 1.0 | D | 0.993 | D | 0.000 | D | 1.000 | D | 3.295 | M | -6.24 | D | -4.81 | D | 0.95 | 6.146 | 28.4 | 0.999 | 0.905 | D | 1.040 | D | 0.987 | D | 0.677 | 0 | 3.24 | 0.069 | 0.998 | 0.036 | 0.998 | 12.368 | Deleterious |
| 827 | 11 | 2572056 | C | T | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572056 | 2572056 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon5:c.C727T:p.R243C,KCNQ1:NM_181798:exon5:c.C346T:p.R116C | 11p15.5 | . | rs199472713 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.62 | H | -5.23 | D | -7.78 | D | 0.974 | 7.890 | 35 | 0.999 | 0.989 | D | 1.056 | D | 0.978 | D | 0.677 | 0 | 4.31 | 0.871 | 0.892 | 0.762 | 0.998 | 15.873 | Deleterious |
| 828 | 11 | 2572089 | G | A | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572089 | 2572089 | G | A | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon5:c.G760A:p.V254M,KCNQ1:NM_181798:exon5:c.G379A:p.V127M | 11p15.5 | . | rs120074179 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.32 | M | -5.05 | D | -2.92 | D | 0.925 | 6.061 | 28.1 | 0.999 | 0.945 | D | 1.094 | D | 0.964 | D | 0.677 | 0 | 4.14 | 0.069 | 0.998 | 0.615 | 0.969 | 15.515 | Deleterious |
| 829 | 11 | 2572862 | T | C | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572862 | 2572862 | T | C | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon6:c.T797C:p.L266P,KCNQ1:NM_181798:exon6:c.T416C:p.L139P | 11p15.5 | . | rs199473460 | 0.009 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.36 | M | -5.41 | D | -6.7 | D | 0.996 | 5.934 | 27.6 | 0.999 | 0.917 | D | 1.075 | D | 0.977 | D | 0.677 | 0 | 3.74 | 0.079 | 1.011 | 0.574 | 1.000 | 11.733 | Deleterious |
| 830 | 11 | 2572895 | C | T | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572895 | 2572895 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon6:c.C830T:p.S277L,KCNQ1:NM_181798:exon6:c.C449T:p.S150L | 11p15.5 | . | rs199472730 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.28 | M | -4.54 | D | -5.83 | D | 0.975 | 6.716 | 32 | 0.999 | 0.942 | D | 1.089 | D | 0.963 | D | 0.677 | 0 | 3.74 | 0.871 | 0.892 | 0.977 | 0.939 | 14.657 | Deleterious |
| 831 | 11 | 2572979 | G | A | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2572979 | 2572979 | G | A | exonic | KCNQ1 | . | stopgain | KCNQ1:NM_000218:exon6:c.G914A:p.W305X,KCNQ1:NM_181798:exon6:c.G533A:p.W178X | 11p15.5 | . | rs120074186 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.535 | 39 | 0.996 | 0.985 | D | . | . | . | . | 0.583 | 0 | 3.9 | 0.917 | 0.998 | 0.950 | 1.000 | 15.014 | Deleterious (FATHMM) |
| 832 | 11 | 2583478 | C | T | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2583478 | 2583478 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon7:c.C965T:p.T322M,KCNQ1:NM_181798:exon7:c.C584T:p.T195M | 11p15.5 | . | rs199472755 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.845 | H | -4.83 | D | -5.57 | D | 0.954 | 6.841 | 33 | 0.999 | 0.732 | D | 1.080 | D | 0.972 | D | 0.677 | 0 | 3.0 | 0.868 | 0.925 | 0.996 | 1.000 | 10.889 | Deleterious |
| 833 | 11 | 2583535 | C | A | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2583535 | 2583535 | C | A | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon7:c.C1022A:p.A341E,KCNQ1:NM_181798:exon7:c.C641A:p.A214E | 11p15.5 | . | rs12720459 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.63 | H | -5.16 | D | -4.68 | D | 0.991 | 7.239 | 34 | 0.994 | 0.807 | D | 1.059 | D | 0.977 | D | 0.677 | 0 | 3.93 | 0.868 | 0.925 | 0.997 | 0.948 | 13.852 | Deleterious |
| 834 | 11 | 2583545 | G | A | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2583545 | 2583545 | G | A | exonic | KCNQ1 | . | synonymous SNV | KCNQ1:NM_000218:exon7:c.G1032A:p.A344A,KCNQ1:NM_181798:exon7:c.G651A:p.A217A | 11p15.5 | . | rs1800171 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 835 | 11 | 2585245 | C | T | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2585245 | 2585245 | C | T | exonic | KCNQ1 | . | stopgain | KCNQ1:NM_000218:exon8:c.C1066T:p.Q356X,KCNQ1:NM_181798:exon8:c.C685T:p.Q229X | 11p15.5 | . | rs397508072 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.488 | 42 | 0.998 | 0.924 | D | . | . | . | . | 0.677 | 0 | 3.84 | 0.868 | 0.881 | 1.000 | 0.999 | 13.702 | Deleterious (FATHMM) |
| 836 | 11 | 2585275 | C | T | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2585275 | 2585275 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon8:c.C1096T:p.R366W,KCNQ1:NM_181798:exon8:c.C715T:p.R239W | 11p15.5 | . | rs199473411 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 2.58 | M | -5.83 | D | -7.31 | D | 0.941 | 7.221 | 34 | 0.999 | 0.596 | D | 1.105 | D | 0.977 | D | 0.677 | 0 | 0.65 | -0.051 | 0.000 | 0.996 | 0.998 | 10.702 | Deleterious |
| 837 | 11 | 2768917 | C | T | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2768917 | 2768917 | C | T | exonic | KCNQ1 | . | stopgain | KCNQ1:NM_000218:exon12:c.C1588T:p.Q530X,KCNQ1:NM_181798:exon12:c.C1207T:p.Q403X | 11p15.5 | . | rs397508097 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.398 | 46 | 0.998 | 0.875 | D | . | . | . | . | 0.625 | 0 | 4.26 | 0.598 | 0.935 | 0.993 | 0.996 | 14.567 | Deleterious (FATHMM) |
| 838 | 11 | 2776006 | C | T | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2776006 | 2776006 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon13:c.C1637T:p.S546L,KCNQ1:NM_181798:exon13:c.C1256T:p.S419L | 11p15.5 | . | rs199473480 | 0.0 | D | 0.999 | D | 0.941 | D | 0.000 | D | 1.000 | D | 2.85 | M | -6.89 | D | -4.82 | D | 0.901 | 7.575 | 34 | 0.999 | 0.964 | D | 0.979 | D | 0.989 | D | 0.610 | 0 | 3.78 | 0.598 | 0.932 | 0.985 | 0.996 | 13.499 | Deleterious |
| 839 | 11 | 2776032 | C | T | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2776032 | 2776032 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon13:c.C1663T:p.R555C,KCNQ1:NM_181798:exon13:c.C1282T:p.R428C | 11p15.5 | . | rs120074185 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.86 | M | -7.5 | D | -6.83 | D | 0.951 | 7.937 | 35 | 0.999 | 0.805 | D | 0.954 | D | 0.993 | D | 0.677 | 0 | 3.78 | 0.871 | 0.932 | 0.985 | 1.000 | 8.850 | Deleterious |
| 840 | 11 | 2777000 | T | C | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2777000 | 2777000 | T | C | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon14:c.T1700C:p.I567T,KCNQ1:NM_181798:exon14:c.T1319C:p.I440T | 11p15.5 | . | rs199472805 | 0.021 | D | 0.853 | P | 0.464 | P | 0.000 | D | 0.954 | D | 1.67 | L | -6.51 | D | -2.87 | D | 0.952 | 5.406 | 26.0 | 0.997 | 0.949 | D | 1.095 | D | 0.962 | D | 0.646 | 0 | 4.02 | 0.079 | 1.061 | 0.173 | 0.993 | 9.532 | Deleterious |
| 841 | 11 | 2778003 | C | T | Pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2778003 | 2778003 | C | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon15:c.C1760T:p.T587M,KCNQ1:NM_181798:exon15:c.C1379T:p.T460M | 11p15.5 | . | rs120074189 | 0.082 | T | 0.999 | D | 0.946 | D | 0.001 | N | 0.977 | A | 2.34 | M | -6.44 | D | -3.64 | D | 0.89 | 4.858 | 24.9 | 0.998 | 0.894 | D | 1.084 | D | 0.982 | D | 0.701 | 0 | 2.16 | 0.868 | 0.890 | 0.501 | 0.312 | 10.236 | Deleterious |
| 842 | 11 | 2778005 | A | T | Pathogenic/Likely pathogenic | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2778005 | 2778005 | A | T | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon15:c.A1762T:p.I588F,KCNQ1:NM_181798:exon15:c.A1381T:p.I461F | 11p15.5 | . | rs794728536 | 0.003 | D | 0.992 | D | 0.932 | D | 0.002 | N | 1.000 | D | 2.175 | M | -6.46 | D | -2.85 | D | 0.722 | 5.076 | 25.3 | 0.989 | 0.881 | D | 1.092 | D | 0.979 | D | 0.701 | 0 | 1.96 | 1.058 | 1.138 | 0.461 | 0.126 | 6.631 | Deleterious |
| 843 | 11 | 2778024 | G | A | Pathogenic/Likely pathogenic, not provided | KCNQ1 | . | . | . | . | . | . | . | . | . | . | 11 | 2778024 | 2778024 | G | A | exonic | KCNQ1 | . | nonsynonymous SNV | KCNQ1:NM_000218:exon15:c.G1781A:p.R594Q,KCNQ1:NM_181798:exon15:c.G1400A:p.R467Q | 11p15.5 | . | rs199472815 | 0.055 | T | 1.0 | D | 0.999 | D | 0.001 | N | 1.000 | D | 1.995 | M | -6.45 | D | -2.27 | N | 0.907 | 5.975 | 27.7 | 0.999 | 0.954 | D | 1.013 | D | 0.982 | D | 0.701 | 0 | 3.1 | 0.626 | 0.996 | 0.553 | 0.794 | 12.441 | Deleterious |
| 844 | 11 | 5225832 | C | G | Pathogenic | HBB | . | . | . | . | . | . | . | . | . | . | 11 | 5225832 | 5225832 | C | G | intronic | HBB | . | . | . | 11p15.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 845 | 11 | 5226774 | C | T | Pathogenic | HBB | . | . | . | . | . | . | . | . | . | . | 11 | 5226774 | 5226774 | C | T | exonic | HBB | . | nonsynonymous SNV | HBB:NM_000518:exon2:c.C118A:p.Q40K | 11p15.4 | . | rs11549407 | 0.002 | D | 0.83 | P | 0.78 | P | . | . | 1.000 | D | 0.82 | L | -2.9 | D | -3.43 | D | 0.768 | 4.085 | 23.7 | 0.996 | 0.874 | D | 0.556 | D | 0.731 | D | 0.487 | 0 | 4.13 | -0.045 | 1.048 | 0.904 | 1.000 | 14.385 | Deleterious |
| 846 | 11 | 5226925 | G | A | Pathogenic/Likely pathogenic | HBB | . | . | . | . | . | . | . | . | . | . | 11 | 5226925 | 5226925 | G | A | intronic | HBB | . | . | . | 11p15.4 | . | rs33915217 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 847 | 11 | 5227002 | A | T | Pathogenic, other, protective | HBB | . | . | . | . | . | . | . | . | . | . | 11 | 5227002 | 5227002 | A | T | exonic | HBB | . | synonymous SNV | HBB:NM_000518:exon1:c.A20A:p.E7E | 11p15.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 848 | 11 | 5227003 | G | A | Pathogenic, protective | HBB | . | . | . | . | . | . | . | . | . | . | 11 | 5227003 | 5227003 | G | A | exonic | HBB | . | stopgain | HBB:NM_000518:exon1:c.G19T:p.E7X | 11p15.4 | . | . | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 7.561 | 34 | 0.993 | 0.471 | N | . | . | . | . | 0.487 | 0 | 5.24 | 0.871 | 0.935 | 0.842 | 0.033 | 17.913 | Deleterious (DANN) |
| 849 | 11 | 6393680 | C | T | Pathogenic | SMPD1 | . | . | . | . | . | . | . | . | . | . | 11 | 6393680 | 6393680 | C | T | exonic | SMPD1 | . | stopgain | SMPD1:NM_000543:exon4:c.C1327T:p.R443X,SMPD1:NM_001007593:exon4:c.C1324T:p.R442X | 11p15.4 | . | rs120074127 | . | . | . | . | . | . | 0.008 | N | 1 | A | . | . | . | . | . | . | . | 12.735 | 40 | 0.998 | 0.983 | D | . | . | . | . | 0.732 | 0 | 1.65 | -0.022 | 0.020 | 0.985 | 0.943 | 12.363 | Deleterious (FATHMM) |
| 850 | 11 | 6393981 | C | T | Pathogenic/Likely pathogenic | SMPD1 | . | . | . | . | . | . | . | . | . | . | 11 | 6393981 | 6393981 | C | T | exonic | SMPD1 | . | nonsynonymous SNV | SMPD1:NM_000543:exon5:c.C1426T:p.R476W,SMPD1:NM_001007593:exon5:c.C1423T:p.R475W | 11p15.4 | . | rs182812968 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.03 | M | -3.27 | D | -7.11 | D | 0.966 | 8.270 | 35 | 0.999 | 0.932 | D | 1.027 | D | 0.905 | D | 0.707 | 0 | 4.74 | 0.871 | 0.935 | 0.994 | 0.974 | 16.466 | Deleterious |
| 851 | 11 | 6615217 | G | A | Pathogenic/Likely pathogenic | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6615217 | 6615217 | G | A | exonic | TPP1 | . | nonsynonymous SNV | TPP1:NM_000391:exon11:c.G1379T:p.W460L | 11p15.4 | . | . | 1.0 | T | 0.9 | P | 0.383 | B | 0.000 | D | 1 | D | 1.28 | L | -2.96 | D | -4.24 | D | 0.962 | 3.506 | 23.1 | 0.969 | 0.986 | D | 0.140 | D | 0.629 | D | 0.707 | 0 | 5.25 | 0.871 | 0.852 | 1.000 | 1.000 | 16.349 | Deleterious |
| 852 | 11 | 6615442 | G | C | Pathogenic | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6615442 | 6615442 | G | C | exonic | TPP1 | . | synonymous SNV | TPP1:NM_000391:exon10:c.G1266G:p.Q422Q | 11p15.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 853 | 11 | 6616056 | G | A | Pathogenic/Likely pathogenic, not provided | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6616056 | 6616056 | G | A | exonic | TPP1 | . | nonsynonymous SNV | TPP1:NM_000391:exon9:c.G1094T:p.C365F | 11p15.4 | . | . | 0.003 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.5 | M | -3.0 | D | -8.9 | D | 0.978 | 6.621 | 32 | 0.990 | 0.979 | D | 1.047 | D | 0.913 | D | 0.732 | 0 | 5.56 | 0.871 | 0.935 | 0.997 | 1.000 | 18.513 | Deleterious |
| 854 | 11 | 6616714 | A | G | Pathogenic | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6616714 | 6616714 | A | G | exonic | TPP1 | . | nonsynonymous SNV | TPP1:NM_000391:exon7:c.A833C:p.Q278P | 11p15.4 | . | . | 0.004 | D | 0.997 | D | 0.958 | D | 0.042 | N | 0.997 | D | 3.355 | M | -5.41 | D | -4.55 | D | 0.848 | 5.044 | 25.2 | 0.994 | 0.972 | D | 1.079 | D | 0.977 | D | 0.722 | 0 | 4.48 | 0.991 | 0.952 | 0.996 | 0.998 | 12.600 | Deleterious |
| 855 | 11 | 6617040 | C | T | Pathogenic | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6617040 | 6617040 | C | T | exonic | TPP1 | . | synonymous SNV | TPP1:NM_000391:exon6:c.C622A:p.R208R | 11p15.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 856 | 11 | 6617154 | G | C | Pathogenic | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6617154 | 6617154 | G | C | splicing | TPP1 | NM_000391:exon6:c.509-1C>G | . | . | 11p15.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 857 | 11 | 6617695 | T | A | Pathogenic | TPP1 | . | . | . | . | . | . | . | . | . | . | 11 | 6617695 | 6617695 | T | A | exonic | TPP1 | . | synonymous SNV | TPP1:NM_000391:exon4:c.T311T:p.L104L | 11p15.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 858 | 11 | 17387917 | G | A | Pathogenic | KCNJ11 | . | . | . | . | . | . | . | . | . | . | 11 | 17387917 | 17387917 | G | A | exonic | KCNJ11 | . | nonsynonymous SNV | KCNJ11:NM_000525:exon1:c.G175T:p.V59L | 11p15.1 | . | . | 0.371 | T | 0.926 | P | 0.69 | P | 0.000 | D | 1 | D | 0.22 | N | -3.06 | D | -0.39 | N | 0.76 | 4.681 | 24.6 | 0.992 | 0.914 | D | 0.208 | D | 0.645 | D | 0.718 | 0 | 4.57 | 0.871 | 0.852 | 0.989 | 0.998 | 16.962 | Deleterious |
| 859 | 11 | 17395611 | C | T | Pathogenic/Likely pathogenic | ABCC8 | . | . | . | . | . | . | . | . | . | . | 11 | 17395611 | 17395611 | C | T | exonic | ABCC8 | . | synonymous SNV | ABCC8:NM_000352:exon35:c.C4306A:p.R1436R,ABCC8:NM_001287174:exon35:c.C4309A:p.R1437R | 11p15.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 860 | 11 | 17397055 | G | A | Pathogenic | ABCC8 | . | . | . | . | . | . | . | . | . | . | 11 | 17397055 | 17397055 | G | A | intronic | ABCC8 | . | . | . | 11p15.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 861 | 11 | 17404524 | G | A | Pathogenic/Likely pathogenic | ABCC8 | . | . | . | . | . | . | . | . | . | . | 11 | 17404524 | 17404524 | G | A | exonic | ABCC8 | . | nonsynonymous SNV | ABCC8:NM_000352:exon28:c.G3545T:p.R1182L,ABCC8:NM_001287174:exon28:c.G3548T:p.R1183L | 11p15.1 | . | rs193922400 | 1.0 | T | 0.004 | B | 0.007 | B | 0.000 | D | 1 | D | 1.075 | L | -2.47 | D | -1.2 | N | 0.977 | 4.534 | 24.3 | 0.998 | 0.948 | D | -0.214 | T | 0.544 | D | 0.615 | 0 | 5.32 | 0.871 | 0.834 | 1.000 | 0.995 | 19.006 | Deleterious |
| 862 | 11 | 17531431 | G | A | Pathogenic | USH1C | . | . | . | . | . | . | . | . | . | . | 11 | 17531431 | 17531431 | G | A | exonic | USH1C | . | synonymous SNV | USH1C:NM_001297764:exon3:c.G216T:p.V72V,USH1C:NM_005709:exon3:c.G216T:p.V72V,USH1C:NM_153676:exon3:c.G216T:p.V72V | 11p15.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 863 | 11 | 19188281 | A | C | Pathogenic/Likely pathogenic | CSRP3 | . | . | . | . | . | . | . | . | . | . | 11 | 19188281 | 19188281 | A | C | exonic | CSRP3 | . | nonsynonymous SNV | CSRP3:NM_003476:exon4:c.A136G:p.S46G | 11p15.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 1.335 | L | -2.82 | D | -3.8 | D | 0.622 | 5.289 | 25.7 | 0.999 | 0.979 | D | 0.693 | D | 0.783 | D | 0.487 | 0 | 5.64 | 0.991 | 1.061 | 0.999 | 0.997 | 15.531 | Deleterious |
| 864 | 11 | 22203803 | G | A | Pathogenic | ANO5 | . | . | . | . | . | . | . | . | . | . | 11 | 22203803 | 22203803 | G | A | splicing | ANO5 | NM_213599:exon2:c.41-1G>A,NM_001142649:exon2:c.41-1G>A | . | . | 11p14.3 | . | rs398124625 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 2.657 | 20.6 | 0.964 | 0.924 | D | . | . | . | . | 0.075 | 0 | 4.02 | 0.630 | 1.048 | 0.216 | 0.647 | 11.964 | Deleterious (FATHMM) |
| 865 | 11 | 22218279 | C | T | Pathogenic/Likely pathogenic | ANO5 | . | . | . | . | . | . | . | . | . | . | 11 | 22218279 | 22218279 | C | T | exonic | ANO5 | . | nonsynonymous SNV | ANO5:NM_001142649:exon4:c.C169T:p.R57W,ANO5:NM_213599:exon4:c.C172T:p.R58W | 11p14.3 | 7.7e-05 | rs201725369 | 0.006 | D | 1.0 | D | 0.998 | D | 0.000 | D | 0.999 | D | 1.905 | M | -0.67 | T | -3.08 | D | 0.9 | 8.343 | 35 | 0.999 | 0.958 | D | 0.025 | D | 0.530 | D | 0.487 | 0 | 5.87 | 0.871 | 0.852 | 0.997 | 0.993 | 20.219 | Deleterious |
| 866 | 11 | 22236206 | G | T | Pathogenic | ANO5 | . | . | . | . | . | . | . | . | . | . | 11 | 22236206 | 22236206 | G | T | exonic | ANO5 | . | nonsynonymous SNV | ANO5:NM_001142649:exon8:c.G689T:p.G230V,ANO5:NM_213599:exon8:c.G692T:p.G231V | 11p14.3 | 0.0008 | rs137854523 | 0.07 | T | 0.997 | D | 0.953 | D | 0.000 | D | 1 | A | 2.14 | M | -0.25 | T | -5.26 | D | 0.811 | 5.011 | 25.1 | 0.998 | 0.972 | D | -0.288 | T | 0.473 | T | 0.554 | 0 | 5.77 | 0.917 | 1.048 | 0.952 | 0.986 | 20.347 | Tolerated |
| 867 | 11 | 22236277 | G | A | Pathogenic | ANO5 | . | . | . | . | . | . | . | . | . | . | 11 | 22236277 | 22236277 | G | A | splicing | ANO5 | NM_213599:exon8:c.762+1G>A,NM_001142649:exon8:c.759+1G>A | . | . | 11p14.3 | 7.7e-05 | rs372221490 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.296 | 25.7 | 0.995 | 0.992 | D | . | . | . | . | 0.075 | 0 | 5.64 | 0.917 | 1.048 | 0.977 | 0.794 | 20.063 | Deleterious (FATHMM) |
| 868 | 11 | 22255400 | C | T | Pathogenic | ANO5 | . | . | . | . | . | . | . | . | . | . | 11 | 22255400 | 22255400 | C | T | exonic | ANO5 | . | stopgain | ANO5:NM_001142649:exon13:c.C1207T:p.R403X,ANO5:NM_213599:exon13:c.C1210T:p.R404X | 11p14.3 | . | rs566415362 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.271 | 45 | 0.998 | 0.958 | D | . | . | . | . | 0.615 | 0 | 5.11 | 0.871 | 0.044 | 0.994 | 0.987 | 18.535 | Deleterious (FATHMM) |
| 869 | 11 | 22274605 | C | T | Pathogenic | ANO5 | . | . | . | . | . | . | . | . | . | . | 11 | 22274605 | 22274605 | C | T | exonic | ANO5 | . | nonsynonymous SNV | ANO5:NM_001142649:exon20:c.C2269T:p.R757C,ANO5:NM_213599:exon20:c.C2272T:p.R758C | 11p14.3 | . | rs137854529 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | A | 3.62 | H | -1.03 | T | -7.34 | D | 0.93 | 7.177 | 34 | 0.999 | 0.972 | D | 0.738 | D | 0.748 | D | 0.638 | 0 | 5.24 | 0.871 | 0.935 | 0.987 | 0.926 | 19.241 | Deleterious |
| 870 | 11 | 31789935 | A | T | Pathogenic | PAX6 | . | . | . | . | . | . | . | . | . | . | 11 | 31789935 | 31789935 | A | T | exonic | PAX6 | . | synonymous SNV | PAX6:NM_001310160:exon10:c.A860A:p.X287X,PAX6:NM_001310161:exon11:c.A860A:p.X287X,PAX6:NM_001258465:exon12:c.A1268A:p.X423X,PAX6:NM_000280:exon13:c.A1268A:p.X423X,PAX6:NM_001127612:exon13:c.A1268A:p.X423X,PAX6:NM_001258464:exon13:c.A1268A:p.X423X,PAX6:NM_001258462:exon14:c.A1310A:p.X437X,PAX6:NM_001258463:exon14:c.A1310A:p.X437X,PAX6:NM_001310158:exon14:c.A1310A:p.X437X,PAX6:NM_001604:exon14:c.A1310A:p.X437X | 11p13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 871 | 11 | 36573626 | C | T | Pathogenic/Likely pathogenic | RAG1 | . | . | . | . | . | . | . | . | . | . | 11 | 36573626 | 36573626 | C | T | exonic | RAG1 | . | stopgain | RAG1:NM_000448:exon2:c.C322T:p.R108X | 11p12 | 7.7e-05 | rs193922464 | . | . | . | . | . | . | 0.012 | N | 1 | D | . | . | . | . | . | . | . | 7.548 | 34 | 0.997 | 0.867 | D | . | . | . | . | 0.549 | 0 | 3.2 | -0.022 | -0.420 | 0.952 | 0.114 | 10.060 | Deleterious (FATHMM) |
| 872 | 11 | 47331882 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47331882 | 47331882 | G | A | splicing | MYBPC3 | NM_000256:exon33:c.3815-1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.269 | 25.7 | 0.986 | 0.690 | D | . | . | . | . | 0.060 | 0 | 4.43 | 0.871 | 0.925 | 0.983 | 0.950 | 9.295 | Deleterious (FATHMM) |
| 873 | 11 | 47332075 | C | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332075 | 47332075 | C | T | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon32:c.C3811A:p.R1271R | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 874 | 11 | 47332189 | C | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332189 | 47332189 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon32:c.C3697A:p.Q1233K | 11p11.2 | . | . | 0.007 | D | 0.854 | P | 0.85 | P | . | . | 1.000 | D | 0.58 | N | -0.7 | T | -3.11 | D | 0.377 | 5.594 | 26.5 | 0.994 | 0.978 | D | -0.306 | T | 0.342 | T | 0.581 | 0 | 4.54 | 0.917 | 1.036 | 1.000 | 0.997 | 15.287 | Tolerated |
| 875 | 11 | 47332244 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332244 | 47332244 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon32:c.G3642T:p.W1214C | 11p11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1 | D | 4.55 | H | -3.97 | D | -11.86 | D | 0.989 | 7.792 | 35 | 0.993 | 0.983 | D | 1.076 | D | 0.970 | D | 0.581 | 0 | 5.46 | 0.871 | 0.925 | 1.000 | 1.000 | 18.077 | Deleterious |
| 876 | 11 | 47332245 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332245 | 47332245 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon32:c.G3641T:p.W1214L | 11p11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1 | D | 3.655 | H | -3.96 | D | -11.86 | D | 0.957 | 7.657 | 35 | 0.988 | 0.989 | D | 1.100 | D | 0.958 | D | 0.403 | 0 | 5.46 | 0.871 | 0.925 | 1.000 | 1.000 | 18.077 | Deleterious |
| 877 | 11 | 47332565 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332565 | 47332565 | G | A | splicing | MYBPC3 | NM_000256:exon31:c.3627+1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.112 | 28.3 | 0.995 | 0.995 | D | . | . | . | . | 0.057 | 0 | 5.34 | 0.871 | 0.920 | 0.944 | 0.958 | 17.819 | Deleterious (FATHMM) |
| 878 | 11 | 47332704 | A | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332704 | 47332704 | A | T | splicing | MYBPC3 | NM_000256:exon31:c.3491-2T>A | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 879 | 11 | 47332896 | C | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332896 | 47332896 | C | A | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon30:c.C3408T:p.Y1136Y | 11p11.2 | . | rs193922383 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 880 | 11 | 47332975 | A | C | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47332975 | 47332975 | A | C | splicing | MYBPC3 | NM_000256:exon30:c.3331-2T>G | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.964 | 25.1 | 0.995 | 0.985 | D | . | . | . | . | 0.057 | 0 | 5.49 | 0.991 | 1.044 | 0.815 | 0.991 | 14.558 | Deleterious (FATHMM) |
| 881 | 11 | 47333189 | G | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333189 | 47333189 | G | T | intronic | MYBPC3 | . | . | . | 11p11.2 | . | rs373746463 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 882 | 11 | 47333189 | G | C | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333189 | 47333189 | G | C | intronic | MYBPC3 | . | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 883 | 11 | 47333192 | T | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333192 | 47333192 | T | G | splicing | MYBPC3 | NM_000256:exon29:c.3330+2A>C | . | . | 11p11.2 | . | rs387906397 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.128 | 25.4 | 0.994 | 0.993 | D | . | . | . | . | 0.078 | 0 | 5.36 | 1.062 | 1.120 | 0.949 | 0.991 | 14.320 | Deleterious (FATHMM) |
| 884 | 11 | 47333238 | G | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333238 | 47333238 | G | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon29:c.G3286A:p.E1096K | 11p11.2 | . | rs121909377 | 0.035 | D | 0.815 | P | 0.643 | P | . | . | 0.999 | D | 2.66 | M | 0.35 | T | -2.39 | N | 0.582 | 6.527 | 31 | 0.999 | 0.967 | D | -0.478 | T | 0.283 | T | 0.554 | 0 | 5.36 | 0.871 | 0.876 | 0.982 | 0.966 | 14.171 | Tolerated |
| 885 | 11 | 47333271 | G | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333271 | 47333271 | G | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon29:c.G3253A:p.E1085K | 11p11.2 | . | . | 0.184 | T | 0.887 | P | 0.775 | P | . | . | 1 | D | 1.81 | L | 0.4 | T | -2.65 | D | 0.949 | 6.353 | 29.4 | 0.999 | 0.975 | D | -0.721 | T | 0.262 | T | 0.554 | 0 | 5.36 | 0.871 | 0.876 | 1.000 | 1.000 | 17.842 | Tolerated |
| 886 | 11 | 47333552 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333552 | 47333552 | G | A | intronic | MYBPC3 | . | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 887 | 11 | 47333555 | T | G | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333555 | 47333555 | T | G | splicing | MYBPC3 | NM_000256:exon28:c.3190+2A>C | . | . | 11p11.2 | . | rs113358486 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.662 | 23.2 | 0.983 | 0.962 | D | . | . | . | . | 0.054 | 0 | 4.02 | 1.062 | 1.120 | 0.523 | 0.128 | 10.693 | Deleterious (FATHMM) |
| 888 | 11 | 47333556 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333556 | 47333556 | G | A | splicing | MYBPC3 | NM_000256:exon28:c.3190+1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.808 | 24.8 | 0.990 | 0.995 | D | . | . | . | . | 0.054 | 0 | 5.22 | 0.871 | 0.876 | 0.546 | 0.119 | 18.381 | Deleterious (FATHMM) |
| 889 | 11 | 47333566 | C | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333566 | 47333566 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon28:c.C3181A:p.Q1061K | 11p11.2 | . | . | 0.196 | T | 0.04 | B | 0.181 | B | . | . | 0.999 | D | 1.375 | L | -0.2 | T | -2.63 | D | 0.524 | 2.104 | 16.88 | 0.972 | 0.989 | D | -0.727 | T | 0.224 | T | 0.517 | 0 | 4.25 | 0.917 | 0.981 | 0.987 | 0.901 | 14.883 | Tolerated |
| 890 | 11 | 47333996 | C | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47333996 | 47333996 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon27:c.C2920A:p.Q974K | 11p11.2 | . | . | 0.289 | T | 0.018 | B | 0.011 | B | . | . | 0.808 | N | -0.145 | N | 0.45 | T | -0.24 | N | 0.167 | 2.791 | 21.3 | 0.985 | 0.919 | D | -1.065 | T | 0.071 | T | 0.403 | 0 | 5.12 | 0.917 | 1.031 | 0.983 | 0.929 | 6.535 | Tolerated |
| 891 | 11 | 47335042 | C | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47335042 | 47335042 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon26:c.C2905A:p.Q969K | 11p11.2 | . | . | 0.026 | D | 0.152 | B | 0.177 | B | . | . | 1.000 | D | 1.52 | L | 0.42 | T | -2.06 | N | 0.354 | 4.055 | 23.7 | 0.987 | 0.965 | D | -0.968 | T | 0.144 | T | 0.403 | 0 | 3.14 | -0.044 | 0.088 | 0.994 | 0.996 | 12.144 | Tolerated |
| 892 | 11 | 47335120 | C | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47335120 | 47335120 | C | T | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon26:c.C2827A:p.R943R | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 893 | 11 | 47335944 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47335944 | 47335944 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon25:c.G2670T:p.W890C | 11p11.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | . | . | 1 | D | 4.585 | H | -2.1 | D | -11.88 | D | 0.992 | 7.353 | 34 | 0.993 | 0.966 | D | 1.079 | D | 0.898 | D | 0.554 | 0 | 5.28 | 0.871 | 0.841 | 0.999 | 0.999 | 18.921 | Deleterious |
| 894 | 11 | 47337452 | C | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47337452 | 47337452 | C | G | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon24:c.C2541C:p.Y847Y | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 895 | 11 | 47337539 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47337539 | 47337539 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon24:c.G2454T:p.W818C | 11p11.2 | . | . | 0.0 | D | 0.994 | D | 0.957 | D | . | . | 1 | D | 3.87 | H | 0.3 | T | -11.74 | D | 0.951 | 7.357 | 34 | 0.992 | 0.948 | D | 0.402 | D | 0.532 | D | 0.554 | 0 | 4.6 | 0.871 | 0.932 | 1.000 | 0.996 | 17.626 | Deleterious |
| 896 | 11 | 47337712 | C | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47337712 | 47337712 | C | A | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon23:c.C2391T:p.Y797Y | 11p11.2 | . | rs727504864 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 897 | 11 | 47337729 | T | C | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47337729 | 47337729 | T | C | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon23:c.T2374G:p.W792G | 11p11.2 | . | rs187830361 | 0.0 | D | 1.0 | D | 0.997 | D | . | . | 1.000 | D | 4.465 | H | -1.82 | D | -11.15 | D | 0.984 | 5.367 | 25.9 | 0.977 | 0.952 | D | 0.888 | D | 0.846 | D | 0.403 | 0 | 3.99 | 1.062 | 1.108 | 0.996 | 0.860 | 11.030 | Deleterious |
| 898 | 11 | 47337796 | A | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47337796 | 47337796 | A | G | splicing | MYBPC3 | NM_000256:exon23:c.2309-2T>C | . | . | 11p11.2 | . | rs111729952 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.577 | 23.2 | 0.983 | 0.997 | D | . | . | . | . | 0.057 | 0 | 4.66 | 0.991 | 0.982 | 0.340 | 0.185 | 13.428 | Deleterious (FATHMM) |
| 899 | 11 | 47338519 | G | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47338519 | 47338519 | G | T | splicing | MYBPC3 | NM_000256:exon22:c.2308+1C>A | . | . | 11p11.2 | 8e-05 | rs112738974 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.910 | 27.5 | 0.995 | 0.987 | D | . | . | . | . | 0.057 | 0 | 5.4 | 0.871 | 0.932 | 0.987 | 0.995 | 19.209 | Deleterious (FATHMM) |
| 900 | 11 | 47338519 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47338519 | 47338519 | G | A | splicing | MYBPC3 | NM_000256:exon22:c.2308+1C>T | . | . | 11p11.2 | . | rs112738974 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.917 | 27.5 | 0.995 | 0.990 | D | . | . | . | . | 0.057 | 0 | 5.4 | 0.871 | 0.932 | 0.987 | 0.995 | 19.209 | Deleterious (FATHMM) |
| 901 | 11 | 47338520 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47338520 | 47338520 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon22:c.G2308T:p.D770Y | 11p11.2 | . | . | 0.0 | D | 0.999 | D | 0.979 | D | . | . | 1 | D | 3.69 | H | 0.29 | T | -7.22 | D | 0.765 | 7.574 | 34 | 0.994 | 0.990 | D | 0.319 | D | 0.532 | D | 0.403 | 0 | 5.4 | 0.871 | 0.932 | 0.992 | 0.997 | 19.209 | Deleterious |
| 902 | 11 | 47338646 | G | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47338646 | 47338646 | G | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon22:c.G2182A:p.E728K | 11p11.2 | . | . | 0.073 | T | 0.577 | P | 0.729 | P | . | . | 1 | D | 1.465 | L | -0.18 | T | -3.45 | D | 0.928 | 6.196 | 28.7 | 0.999 | 0.993 | D | -0.370 | T | 0.354 | T | 0.554 | 0 | 5.4 | 0.871 | 0.935 | 0.999 | 0.993 | 19.209 | Tolerated |
| 903 | 11 | 47339653 | C | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47339653 | 47339653 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon20:c.C2065A:p.Q689K | 11p11.2 | . | . | 0.775 | T | 0.0 | B | 0.001 | B | . | . | 0.582 | N | -0.69 | N | 0.47 | T | -0.3 | N | 0.117 | 0.162 | 4.278 | 0.386 | 0.727 | D | -1.020 | T | 0.058 | T | 0.403 | 0 | 2.95 | 0.917 | 1.048 | 0.616 | 0.149 | 9.876 | Tolerated |
| 904 | 11 | 47339670 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47339670 | 47339670 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon20:c.G2048T:p.W683L | 11p11.2 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | . | . | 1 | D | 3.42 | M | -3.96 | D | -10.89 | D | 0.901 | 7.304 | 34 | 0.987 | 0.982 | D | 1.100 | D | 0.954 | D | 0.403 | 0 | 4.9 | 0.871 | 0.935 | 0.942 | 0.998 | 18.259 | Deleterious |
| 905 | 11 | 47339792 | A | G | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47339792 | 47339792 | A | G | splicing | MYBPC3 | NM_000256:exon20:c.1928-2T>C | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.316 | 24.0 | 0.994 | 0.979 | D | . | . | . | . | 0.057 | 0 | 4.9 | 0.991 | 1.061 | 0.871 | 0.887 | 14.684 | Deleterious (FATHMM) |
| 906 | 11 | 47341137 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47341137 | 47341137 | G | A | splicing | MYBPC3 | NM_000256:exon18:c.1897+1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.941 | 27.6 | 0.995 | 0.995 | D | . | . | . | . | 0.057 | 0 | 4.9 | 0.871 | 0.935 | 0.997 | 0.997 | 18.266 | Deleterious (FATHMM) |
| 907 | 11 | 47342574 | A | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342574 | 47342574 | A | T | intronic | MYBPC3 | . | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 908 | 11 | 47342576 | T | C | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342576 | 47342576 | T | C | splicing | MYBPC3 | NM_000256:exon16:c.1624+2A>G | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.254 | 22.8 | 0.979 | 0.973 | D | . | . | . | . | 0.057 | 0 | 3.49 | 1.062 | 1.199 | 0.973 | 0.924 | 10.017 | Deleterious (FATHMM) |
| 909 | 11 | 47342578 | G | C | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342578 | 47342578 | G | C | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon16:c.G1624G:p.E542E | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 910 | 11 | 47342627 | T | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342627 | 47342627 | T | G | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon16:c.T1575C:p.Y525Y | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 911 | 11 | 47342697 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342697 | 47342697 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon16:c.G1505T:p.R502L | 11p11.2 | . | rs397515907 | 0.003 | D | 0.597 | P | 0.678 | P | . | . | 1.000 | D | 2.4 | M | -0.26 | T | -5.78 | D | 0.911 | 7.774 | 35 | 0.998 | 0.988 | D | -0.042 | T | 0.447 | T | 0.403 | 0 | 4.63 | 0.871 | 0.935 | 0.999 | 1.000 | 17.644 | Tolerated |
| 912 | 11 | 47342718 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342718 | 47342718 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon16:c.G1484T:p.R495L | 11p11.2 | . | . | 0.177 | T | 0.118 | B | 0.224 | B | . | . | 1.000 | D | 1.255 | L | -0.25 | T | -4.39 | D | 0.895 | 6.459 | 29.9 | 0.997 | 0.979 | D | -0.629 | T | 0.268 | T | 0.554 | 0 | 4.63 | 0.871 | 0.935 | 0.993 | 0.995 | 17.644 | Tolerated |
| 913 | 11 | 47342719 | C | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342719 | 47342719 | C | G | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon16:c.C1483C:p.R495R | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 914 | 11 | 47342745 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47342745 | 47342745 | G | A | splicing | MYBPC3 | NM_000256:exon16:c.1458-1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.309 | 25.8 | 0.994 | 0.987 | D | . | . | . | . | 0.078 | 0 | 4.63 | 0.871 | 0.935 | 0.997 | 0.959 | 17.644 | Deleterious (FATHMM) |
| 915 | 11 | 47343019 | T | C | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47343019 | 47343019 | T | C | splicing | MYBPC3 | NM_000256:exon14:c.1351+2A>G | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.169 | 22.7 | 0.966 | 0.993 | D | . | . | . | . | 0.057 | 0 | 3.71 | 0.126 | 1.199 | 0.778 | 0.988 | 10.488 | Deleterious (FATHMM) |
| 916 | 11 | 47343020 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47343020 | 47343020 | G | A | splicing | MYBPC3 | NM_000256:exon14:c.1351+1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.257 | 23.9 | 0.986 | 0.996 | D | . | . | . | . | 0.057 | 0 | 4.87 | 0.871 | 0.935 | 0.885 | 0.995 | 17.791 | Deleterious (FATHMM) |
| 917 | 11 | 47343147 | A | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47343147 | 47343147 | A | G | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon14:c.A1225C:p.R409R | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.246 | 23.9 | 0.994 | 0.986 | D | . | . | . | . | 0.057 | 0 | 4.72 | 0.991 | 1.061 | 0.941 | 0.898 | 14.026 | Deleterious (FATHMM) |
| 918 | 11 | 47343505 | C | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47343505 | 47343505 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon13:c.C1210A:p.Q404K | 11p11.2 | . | . | 0.837 | T | 0.015 | B | 0.03 | B | . | . | 0.833 | D | -0.495 | N | -0.15 | T | 0.2 | N | 0.359 | 1.303 | 12.28 | 0.629 | 0.902 | D | -0.980 | T | 0.093 | T | 0.517 | 0 | 4.99 | 0.913 | 1.043 | 1.000 | 1.000 | 13.444 | Tolerated |
| 919 | 11 | 47346206 | G | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346206 | 47346206 | G | T | splicing | MYBPC3 | NM_000256:exon12:c.1090+1C>A | . | . | 11p11.2 | . | rs727504269 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.855 | 27.3 | 0.994 | 0.992 | D | . | . | . | . | 0.057 | 0 | 4.7 | 0.871 | 0.935 | 0.939 | 0.949 | 17.827 | Deleterious (FATHMM) |
| 920 | 11 | 47346206 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346206 | 47346206 | G | A | splicing | MYBPC3 | NM_000256:exon12:c.1090+1C>T | . | . | 11p11.2 | . | rs727504269 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.173 | 28.6 | 0.994 | 0.993 | D | . | . | . | . | 0.057 | 0 | 4.7 | 0.871 | 0.935 | 0.939 | 0.949 | 17.827 | Deleterious (FATHMM) |
| 921 | 11 | 47346297 | G | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346297 | 47346297 | G | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon12:c.G1000A:p.E334K | 11p11.2 | . | rs573916965 | 0.002 | D | 0.874 | P | 0.334 | B | . | . | 1 | D | 2.73 | M | -0.32 | T | -3.56 | D | 0.96 | 4.875 | 24.9 | 0.999 | 0.992 | D | -0.027 | T | 0.385 | T | 0.570 | 0 | 4.7 | 0.853 | 0.934 | 0.978 | 0.985 | 17.827 | Tolerated |
| 922 | 11 | 47346298 | C | G | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346298 | 47346298 | C | G | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon12:c.C999C:p.Y333Y | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 923 | 11 | 47346331 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346331 | 47346331 | G | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon12:c.G966T:p.W322C | 11p11.2 | . | . | 0.001 | D | 0.998 | D | 0.95 | D | . | . | 1 | D | 2.585 | M | 0.18 | T | -11.7 | D | 0.833 | 6.920 | 33 | 0.993 | 0.989 | D | -0.068 | T | 0.414 | T | 0.570 | 0 | 4.7 | 0.853 | 0.934 | 0.999 | 0.998 | 17.827 | Tolerated |
| 924 | 11 | 47346365 | C | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346365 | 47346365 | C | A | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon12:c.C932T:p.S311L | 11p11.2 | . | rs193922386 | 0.18 | T | 0.045 | B | 0.007 | B | . | . | 0.993 | N | 0.345 | N | 0.36 | T | -1.08 | N | 0.72 | 3.057 | 22.4 | 0.997 | 0.188 | N | -1.001 | T | 0.118 | T | 0.570 | 0 | 4.4 | 0.897 | 0.951 | 0.990 | 0.972 | 13.689 | Tolerated |
| 925 | 11 | 47346372 | A | G | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346372 | 47346372 | A | G | splicing | MYBPC3 | NM_000256:exon12:c.927-2T>C | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.198 | 23.9 | 0.970 | 0.882 | D | . | . | . | . | 0.057 | 0 | 4.4 | 0.877 | 0.963 | 0.976 | 0.962 | 11.607 | Deleterious (FATHMM) |
| 926 | 11 | 47346379 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47346379 | 47346379 | G | A | intronic | MYBPC3 | . | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 927 | 11 | 47347852 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47347852 | 47347852 | G | A | intronic | MYBPC3 | . | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 928 | 11 | 47347856 | G | C | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47347856 | 47347856 | G | C | splicing | MYBPC3 | NM_000256:exon7:c.821+1C>G | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 929 | 11 | 47347856 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47347856 | 47347856 | G | A | splicing | MYBPC3 | NM_000256:exon7:c.821+1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.174 | 25.5 | 0.991 | 0.989 | D | . | . | . | . | 0.057 | 0 | 5.55 | 0.871 | 0.892 | 0.120 | 0.995 | 17.681 | Deleterious (FATHMM) |
| 930 | 11 | 47348423 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47348423 | 47348423 | G | A | splicing | MYBPC3 | NM_000256:exon6:c.772+1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.582 | 26.5 | 0.995 | 0.963 | D | . | . | . | . | 0.057 | 0 | 5.12 | 0.871 | 0.852 | 0.962 | 0.915 | 18.565 | Deleterious (FATHMM) |
| 931 | 11 | 47348424 | G | A | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47348424 | 47348424 | G | A | exonic | MYBPC3 | . | stopgain | MYBPC3:NM_000256:exon6:c.G772T:p.E258X | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 11.730 | 38 | 0.997 | 0.963 | D | . | . | . | . | 0.403 | 0 | 5.12 | 0.871 | 0.852 | 0.965 | 0.908 | 18.565 | Deleterious (FATHMM) |
| 932 | 11 | 47348541 | G | T | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47348541 | 47348541 | G | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon6:c.G655A:p.V219I | 11p11.2 | . | . | 0.452 | T | 0.012 | B | 0.201 | B | . | . | 1.000 | D | -0.105 | N | -0.43 | T | -0.18 | N | 0.087 | 0.927 | 10.23 | 0.944 | 0.887 | D | -1.053 | T | 0.138 | T | 0.581 | 0 | 2.93 | 0.871 | 0.007 | 0.996 | 0.926 | 8.372 | Tolerated |
| 933 | 11 | 47348541 | G | C | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47348541 | 47348541 | G | C | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon6:c.G655G:p.V219V | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 934 | 11 | 47348542 | G | A | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47348542 | 47348542 | G | A | splicing | MYBPC3 | NM_000256:exon6:c.655-1C>T | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.059 | 25.2 | 0.994 | 0.995 | D | . | . | . | . | 0.057 | 0 | 4.81 | 0.871 | 0.852 | 0.991 | 0.920 | 17.879 | Deleterious (FATHMM) |
| 935 | 11 | 47349815 | C | T | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47349815 | 47349815 | C | T | exonic | MYBPC3 | . | nonsynonymous SNV | MYBPC3:NM_000256:exon5:c.C613A:p.Q205K | 11p11.2 | . | . | 1.0 | T | 0.0 | B | 0.0 | B | . | . | 0.728 | D | -2.725 | N | -0.41 | T | 1.88 | N | 0.171 | 0.637 | 8.411 | 0.447 | 0.708 | D | -0.899 | T | 0.039 | T | 0.581 | 0 | 3.74 | -0.045 | 1.048 | 0.990 | 0.999 | 6.972 | Tolerated |
| 936 | 11 | 47351294 | C | G | Pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47351294 | 47351294 | C | G | exonic | MYBPC3 | . | synonymous SNV | MYBPC3:NM_000256:exon2:c.C237C:p.Y79Y | 11p11.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 937 | 11 | 47351507 | A | G | Pathogenic/Likely pathogenic | MYBPC3 | . | . | . | . | . | . | . | . | . | . | 11 | 47351507 | 47351507 | A | G | splicing | MYBPC3 | NM_000256:exon2:c.26-2T>C | . | . | 11p11.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.603 | 23.2 | 0.984 | 0.966 | D | . | . | . | . | 0.074 | 0 | 4.27 | 0.991 | 1.011 | 0.947 | 0.833 | 8.319 | Deleterious (FATHMM) |
| 938 | 11 | 61393965 | G | T | Pathogenic | TMEM216 | . | . | . | . | . | . | . | . | . | . | 11 | 61393965 | 61393965 | G | T | exonic | TMEM216 | . | nonsynonymous SNV | TMEM216:NM_001173990:exon3:c.G218T:p.R73L,TMEM216:NM_001173991:exon3:c.G218T:p.R73L,TMEM216:NM_016499:exon3:c.G35T:p.R12L | 11q12.2 | . | rs201108965 | 0.004 | D | 0.989 | D | 0.865 | P | 0.000 | D | 1.000 | D | 2.845 | M | -3.4 | D | -6.18 | D | 0.976 | 5.891 | 27.4 | 0.997 | 0.916 | D | 0.766 | D | 0.860 | D | 0.732 | 0 | 3.12 | 0.917 | 1.048 | 0.800 | 0.995 | 8.601 | Deleterious |
| 939 | 11 | 62702499 | A | G | Pathogenic | BSCL2|HNRNPUL2-BSCL2 | . | . | . | . | . | . | . | . | . | . | 11 | 62702499 | 62702499 | A | G | exonic | BSCL2 | . | nonsynonymous SNV | BSCL2:NM_001122955:exon3:c.A455C:p.N152T,BSCL2:NM_001130702:exon3:c.A263C:p.N88T,BSCL2:NM_032667:exon3:c.A263C:p.N88T | 11q12.3 | . | . | 0.1 | T | 1.0 | D | 1.0 | D | 0.000 | U | 1.000 | D | 2.075 | M | -2.33 | D | -3.9 | D | 0.533 | 5.044 | 25.2 | 0.996 | 0.953 | D | -0.455 | T | 0.338 | T | 0.732 | 0 | 5.64 | 0.991 | 1.061 | 1.000 | 0.998 | 13.82 | Tolerated |
| 940 | 11 | 64753556 | G | A | Pathogenic/Likely pathogenic | PYGM | . | . | . | . | . | . | . | . | . | . | 11 | 64753556 | 64753556 | G | A | exonic | PYGM | . | nonsynonymous SNV | PYGM:NM_001164716:exon9:c.G1102T:p.V368L,PYGM:NM_005609:exon11:c.G1366T:p.V456L | 11q13.1 | . | . | 0.0 | D | 0.999 | D | 0.965 | D | 0.000 | D | 1 | D | 4.335 | H | -3.71 | D | -2.62 | D | 0.963 | 6.508 | 31 | 0.998 | 0.972 | D | 1.048 | D | 0.979 | D | 0.718 | 0 | 5.02 | 0.871 | 0.919 | 0.996 | 0.969 | 15.876 | Deleterious |
| 941 | 11 | 64759751 | C | T | Pathogenic | PYGM | . | . | . | . | . | . | . | . | . | . | 11 | 64759751 | 64759751 | C | T | exonic | PYGM | . | synonymous SNV | PYGM:NM_001164716:exon1:c.C148A:p.R50R,PYGM:NM_005609:exon1:c.C148A:p.R50R | 11q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 942 | 11 | 64804738 | G | T | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64804738 | 64804738 | G | T | exonic | MEN1 | . | nonsynonymous SNV | MEN1:NM_000244:exon10:c.G1444A:p.E482K,MEN1:NM_130799:exon10:c.G1429A:p.E477K,MEN1:NM_130800:exon10:c.G1444A:p.E482K,MEN1:NM_130801:exon10:c.G1444A:p.E482K,MEN1:NM_130802:exon10:c.G1444A:p.E482K,MEN1:NM_130803:exon10:c.G1444A:p.E482K,MEN1:NM_130804:exon11:c.G1444A:p.E482K | 11q13.1 | . | . | 0.295 | T | 0.997 | D | 0.989 | D | 0.000 | D | 1.000 | D | 1.01 | L | -6.3 | D | -1.19 | N | 0.665 | 5.121 | 25.4 | 0.998 | 0.974 | D | 1.067 | D | 0.966 | D | 0.722 | 0 | 4.54 | 0.598 | 0.935 | 0.161 | 0.991 | 13.223 | Deleterious |
| 943 | 11 | 64804789 | C | T | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64804789 | 64804789 | C | T | exonic | MEN1 | . | synonymous SNV | MEN1:NM_000244:exon10:c.C1393A:p.R465R,MEN1:NM_130799:exon10:c.C1378A:p.R460R,MEN1:NM_130800:exon10:c.C1393A:p.R465R,MEN1:NM_130801:exon10:c.C1393A:p.R465R,MEN1:NM_130802:exon10:c.C1393A:p.R465R,MEN1:NM_130803:exon10:c.C1393A:p.R465R,MEN1:NM_130804:exon11:c.C1393A:p.R465R | 11q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 944 | 11 | 64805076 | G | T | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64805076 | 64805076 | G | T | exonic | MEN1 | . | stopgain | MEN1:NM_000244:exon9:c.G1323A:p.W441X,MEN1:NM_130799:exon9:c.G1308A:p.W436X,MEN1:NM_130800:exon9:c.G1323A:p.W441X,MEN1:NM_130801:exon9:c.G1323A:p.W441X,MEN1:NM_130802:exon9:c.G1323A:p.W441X,MEN1:NM_130803:exon9:c.G1323A:p.W441X,MEN1:NM_130804:exon10:c.G1323A:p.W441X | 11q13.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 12.883 | 40 | 0.996 | 0.936 | D | . | . | . | . | 0.732 | 0 | 4.01 | 0.033 | 0.935 | 0.791 | 0.999 | 14.092 | Deleterious (FATHMM) |
| 945 | 11 | 64805122 | G | A | Pathogenic/Likely pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64805122 | 64805122 | G | A | exonic | MEN1 | . | nonsynonymous SNV | MEN1:NM_000244:exon9:c.G1277T:p.C426F,MEN1:NM_130799:exon9:c.G1262T:p.C421F,MEN1:NM_130800:exon9:c.G1277T:p.C426F,MEN1:NM_130801:exon9:c.G1277T:p.C426F,MEN1:NM_130802:exon9:c.G1277T:p.C426F,MEN1:NM_130803:exon9:c.G1277T:p.C426F,MEN1:NM_130804:exon10:c.G1277T:p.C426F | 11q13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.08 | M | -6.49 | D | -9.32 | D | 0.961 | 6.789 | 32 | 0.994 | 0.987 | D | 1.016 | D | 0.984 | D | 0.732 | 0 | 4.01 | 0.871 | 0.935 | 0.991 | 1.000 | 14.092 | Deleterious |
| 946 | 11 | 64805132 | G | A | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64805132 | 64805132 | G | A | exonic | MEN1 | . | nonsynonymous SNV | MEN1:NM_000244:exon9:c.G1267T:p.D423Y,MEN1:NM_130799:exon9:c.G1252T:p.D418Y,MEN1:NM_130800:exon9:c.G1267T:p.D423Y,MEN1:NM_130801:exon9:c.G1267T:p.D423Y,MEN1:NM_130802:exon9:c.G1267T:p.D423Y,MEN1:NM_130803:exon9:c.G1267T:p.D423Y,MEN1:NM_130804:exon10:c.G1267T:p.D423Y | 11q13.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.003 | N | 1 | D | 2.11 | M | -6.49 | D | -7.97 | D | 0.916 | 7.201 | 34 | 0.995 | 0.989 | D | 1.017 | D | 0.983 | D | 0.722 | 0 | 3.71 | 0.871 | 0.935 | 0.742 | 1.000 | 13.454 | Deleterious |
| 947 | 11 | 64805171 | C | T | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64805171 | 64805171 | C | T | exonic | MEN1 | . | nonsynonymous SNV | MEN1:NM_000244:exon9:c.C1228A:p.Q410K,MEN1:NM_130799:exon9:c.C1213A:p.Q405K,MEN1:NM_130800:exon9:c.C1228A:p.Q410K,MEN1:NM_130801:exon9:c.C1228A:p.Q410K,MEN1:NM_130802:exon9:c.C1228A:p.Q410K,MEN1:NM_130803:exon9:c.C1228A:p.Q410K,MEN1:NM_130804:exon10:c.C1228A:p.Q410K | 11q13.1 | . | . | 0.525 | T | 0.149 | B | 0.154 | B | 0.000 | D | 1 | D | 0.805 | L | -5.72 | D | 0.08 | N | 0.446 | 1.594 | 13.82 | 0.955 | 0.993 | D | 0.933 | D | 0.902 | D | 0.722 | 0 | 3.71 | 0.917 | 1.048 | 0.781 | 0.998 | 13.454 | Deleterious |
| 948 | 11 | 64807010 | G | A | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64807010 | 64807010 | G | A | splicing | MEN1 | NM_130804:exon7:c.927+1C>T,NM_130803:exon6:c.927+1C>T,NM_130802:exon6:c.927+1C>T,NM_130801:exon6:c.927+1C>T,NM_130800:exon6:c.927+1C>T,NM_130799:exon6:c.912+1C>T,NM_000244:exon6:c.927+1C>T | . | . | 11q13.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.334 | 25.8 | 0.995 | 0.991 | D | . | . | . | . | 0.322 | 0 | 4.24 | 0.598 | 0.852 | 0.983 | 0.967 | 14.501 | Deleterious (FATHMM) |
| 949 | 11 | 64807228 | G | A | Pathogenic | MEN1 | . | . | . | . | . | . | . | . | . | . | 11 | 64807228 | 64807228 | G | A | intronic | MEN1 | . | . | . | 11q13.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 950 | 11 | 66211206 | C | T | Pathogenic/Likely pathogenic | PACS1 | . | . | . | . | . | . | . | . | . | . | 11 | 66211206 | 66211206 | C | T | exonic | PACS1 | . | nonsynonymous SNV | PACS1:NM_018026:exon4:c.C607T:p.R203W | 11q13.2 | . | rs398123009 | 0.0 | D | 1.0 | D | 0.987 | D | 0.000 | D | 1 | D | 2.89 | M | 1.16 | T | -6.85 | D | 0.969 | 7.636 | 35 | 0.999 | 0.907 | D | -0.524 | T | 0.250 | T | 0.706 | 0 | 4.79 | 0.871 | 0.892 | 0.995 | 1.000 | 12.765 | Tolerated |
| 951 | 11 | 66526181 | T | G | Pathogenic | BBS1|ZDHHC24 | . | . | . | . | . | . | . | . | . | . | 11 | 66526181 | 66526181 | T | G | exonic | BBS1 | . | nonsynonymous SNV | BBS1:NM_024649:exon12:c.T1169G:p.M390R | 11q13.2 | 0.0020 | rs113624356 | 0.017 | D | 0.989 | D | 0.815 | P | . | . | 1 | A | 2.075 | M | 0.45 | T | -4.04 | D | 0.974 | 6.084 | 28.2 | 0.985 | 0.987 | D | 0.728 | D | 0.730 | D | 0.635 | 0 | 4.47 | 0.673 | 1.061 | 0.995 | 1.000 | 12.038 | Deleterious |
| 952 | 11 | 67612225 | C | T | Pathogenic | NDUFV1 | . | . | . | . | . | . | . | . | . | . | 11 | 67612225 | 67612225 | C | T | exonic | NDUFV1 | . | nonsynonymous SNV | NDUFV1:NM_001166102:exon9:c.C1241T:p.T414M,NDUFV1:NM_007103:exon9:c.C1268T:p.T423M | 11q13.2 | . | rs121913659 | 0.0 | D | 1.0 | D | 0.927 | D | 0.000 | D | 1 | A | 4.015 | H | -2.79 | D | -5.55 | D | 0.933 | 6.126 | 28.4 | 0.999 | 0.963 | D | 1.061 | D | 0.901 | D | 0.707 | 0 | 5.16 | 0.871 | 0.920 | 0.996 | 0.554 | 17.207 | Deleterious |
| 953 | 11 | 68780662 | C | T | Pathogenic | CPT1A | . | . | . | . | . | . | . | . | . | . | 11 | 68780662 | 68780662 | C | T | exonic | CPT1A | . | nonsynonymous SNV | CPT1A:NM_001031847:exon12:c.C1436A:p.P479Q,CPT1A:NM_001876:exon12:c.C1436A:p.P479Q | 11q13.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.845 | M | -2.49 | D | -6.6 | D | 0.904 | 5.409 | 26.0 | 0.990 | 0.982 | D | 0.840 | D | 0.850 | D | 0.732 | 0 | 5.46 | 0.917 | 1.048 | 0.974 | 0.006 | 19.317 | Deleterious |
| 954 | 11 | 68906109 | C | T | Pathogenic | IGHMBP2 | . | . | . | . | . | . | . | . | . | . | 11 | 68906109 | 68906109 | C | T | exonic | IGHMBP2 | . | stopgain | IGHMBP2:NM_002180:exon2:c.C127T:p.R43X | 11q13.3 | 0.0002 | rs200089714 | . | . | . | . | . | . | 0.001 | N | 1 | A | . | . | . | . | . | . | . | 10.656 | 36 | 0.998 | 0.696 | D | . | . | . | . | 0.745 | 0 | 2.44 | 0.871 | 0.935 | 0.998 | 1.000 | 8.142 | Deleterious (FATHMM) |
| 955 | 11 | 68933854 | C | T | Pathogenic/Likely pathogenic | IGHMBP2 | . | . | . | . | . | . | . | . | . | . | 11 | 68933854 | 68933854 | C | T | exonic | IGHMBP2 | . | nonsynonymous SNV | IGHMBP2:NM_002180:exon10:c.C1478T:p.T493I | 11q13.3 | . | rs780594709 | 0.0 | D | 0.999 | D | 0.987 | D | 0.000 | D | 1.000 | D | 2.17 | M | -3.01 | D | -5.4 | D | 0.94 | 5.971 | 27.7 | 0.999 | 0.987 | D | 0.883 | D | 0.848 | D | 0.696 | 0 | 4.74 | 0.871 | 0.932 | 0.961 | 0.316 | 14.674 | Deleterious |
| 956 | 11 | 68933864 | C | A | Pathogenic | IGHMBP2 | . | . | . | . | . | . | . | . | . | . | 11 | 68933864 | 68933864 | C | A | exonic | IGHMBP2 | . | stopgain | IGHMBP2:NM_002180:exon10:c.C1488A:p.C496X | 11q13.3 | 0.0002 | rs145226920 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 8.021 | 35 | 0.982 | 0.346 | N | . | . | . | . | 0.696 | 0 | -5.46 | -0.514 | -1.468 | 0.992 | 0.371 | 12.540 | Deleterious (DANN) |
| 957 | 11 | 68934466 | G | A | Pathogenic | IGHMBP2 | . | . | . | . | . | . | . | . | . | . | 11 | 68934466 | 68934466 | G | A | exonic | IGHMBP2 | . | nonsynonymous SNV | IGHMBP2:NM_002180:exon11:c.G1540A:p.E514K | 11q13.3 | 7.7e-05 | rs137852665 | 0.0 | D | 1.0 | D | 1.0 | D | 0.001 | N | 1 | A | 4.63 | H | -4.39 | D | -3.88 | D | 0.994 | 7.142 | 34 | 0.999 | 0.986 | D | 1.061 | D | 0.974 | D | 0.778 | 0 | 4.94 | 0.917 | 0.998 | 0.835 | 0.190 | 16.943 | Deleterious |
| 958 | 11 | 71435748 | G | A | Pathogenic | DHCR7 | . | . | . | . | . | . | . | . | . | . | 11 | 71435748 | 71435748 | G | A | exonic | DHCR7 | . | nonsynonymous SNV | DHCR7:NM_001163817:exon9:c.G1055T:p.R352L,DHCR7:NM_001360:exon9:c.G1055T:p.R352L | 11q13.4 | . | rs121909768 | 0.001 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.565 | H | -4.76 | D | -6.61 | D | 0.978 | 7.689 | 35 | 0.955 | 0.945 | D | 1.083 | D | 0.973 | D | 0.707 | 0 | 5.08 | 0.871 | 0.935 | 0.990 | 0.957 | 15.943 | Deleterious |
| 959 | 11 | 71435840 | G | C | Pathogenic/Likely pathogenic | DHCR7 | . | . | . | . | . | . | . | . | . | . | 11 | 71435840 | 71435840 | G | C | splicing | DHCR7 | NM_001360:exon9:c.964-1C>G,NM_001163817:exon9:c.964-1C>G | . | . | 11q13.4 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 960 | 11 | 71437934 | G | A | Pathogenic | DHCR7 | . | . | . | . | . | . | . | . | . | . | 11 | 71437934 | 71437934 | G | A | exonic | DHCR7 | . | nonsynonymous SNV | DHCR7:NM_001163817:exon8:c.G841T:p.V281L,DHCR7:NM_001360:exon8:c.G841T:p.V281L | 11q13.4 | . | . | 0.022 | D | 0.997 | D | 0.964 | D | 0.000 | D | 1 | D | 2.3 | M | -4.88 | D | -2.5 | D | 0.831 | 6.854 | 33 | 0.997 | 0.926 | D | 1.093 | D | 0.953 | D | 0.707 | 0 | 4.36 | 0.871 | 0.935 | 0.996 | 0.996 | 14.416 | Deleterious |
| 961 | 11 | 71438986 | C | T | Pathogenic | DHCR7 | . | . | . | . | . | . | . | . | . | . | 11 | 71438986 | 71438986 | C | T | exonic | DHCR7 | . | nonsynonymous SNV | DHCR7:NM_001163817:exon7:c.C724A:p.R242S,DHCR7:NM_001360:exon7:c.C724A:p.R242S | 11q13.4 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.675 | H | -5.6 | D | -5.73 | D | 0.956 | 7.026 | 33 | 0.998 | 0.986 | D | 1.024 | D | 0.985 | D | 0.707 | 0 | 4.44 | 0.630 | 0.998 | 0.759 | 0.452 | 15.096 | Deleterious |
| 962 | 11 | 71441401 | G | A | Pathogenic | DHCR7 | . | . | . | . | . | . | . | . | . | . | 11 | 71441401 | 71441401 | G | A | exonic | DHCR7 | . | nonsynonymous SNV | DHCR7:NM_001163817:exon6:c.G452T:p.W151L,DHCR7:NM_001360:exon6:c.G452T:p.W151L | 11q13.4 | . | . | 0.026 | D | 0.999 | D | 0.981 | D | 0.000 | D | 1 | D | 1.055 | L | -3.92 | D | -9.22 | D | 0.799 | 2.809 | 21.4 | 0.939 | 0.942 | D | 0.899 | D | 0.895 | D | 0.707 | 0 | 4.14 | 0.598 | 0.935 | 0.942 | 0.822 | 14.271 | Deleterious |
| 963 | 11 | 71444952 | A | G | Pathogenic/Likely pathogenic | DHCR7 | . | . | . | . | . | . | . | . | . | . | 11 | 71444952 | 71444952 | A | G | exonic | DHCR7 | . | nonsynonymous SNV | DHCR7:NM_001163817:exon3:c.A1C:p.M1L,DHCR7:NM_001360:exon3:c.A1C:p.M1L | 11q13.4 | . | . | 0.0 | D | 0.456 | P | 0.134 | B | 0.005 | N | 1 | D | . | . | -2.45 | D | -0.6 | N | 0.899 | 3.231 | 22.8 | 0.948 | 0.941 | D | 0.706 | D | 0.813 | D | 0.707 | 0 | 4.06 | 0.673 | 1.061 | 0.117 | 0.863 | 9.969 | Deleterious |
| 964 | 11 | 77156909 | G | A | Pathogenic | MYO7A | . | . | . | . | . | . | . | . | . | . | 11 | 77156909 | 77156909 | G | A | exonic | MYO7A | . | nonsynonymous SNV | MYO7A:NM_000260:exon7:c.G640A:p.G214R,MYO7A:NM_001127179:exon7:c.G640A:p.G214R,MYO7A:NM_001127180:exon7:c.G640A:p.G214R | 11q13.5 | . | rs111033283 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.27 | H | -3.19 | D | -6.92 | D | 0.994 | 7.282 | 34 | 0.999 | 0.987 | D | 1.105 | D | 0.942 | D | 0.554 | 0 | 5.2 | 0.913 | 0.951 | 0.994 | 0.995 | 18.751 | Deleterious |
| 965 | 11 | 77184688 | G | T | Pathogenic/Likely pathogenic | MYO7A | . | . | . | . | . | . | . | . | . | . | 11 | 77184688 | 77184688 | G | T | exonic | MYO7A | . | nonsynonymous SNV | MYO7A:NM_000260:exon27:c.G3476T:p.G1159V,MYO7A:NM_001127179:exon27:c.G3476T:p.G1159V,MYO7A:NM_001127180:exon27:c.G3476T:p.G1159V | 11q13.5 | . | rs199897298 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.405 | M | -2.72 | D | -8.15 | D | 0.995 | 6.448 | 29.8 | 0.998 | 0.989 | D | 1.054 | D | 0.909 | D | 0.615 | 0 | 5.02 | 0.917 | 0.943 | 0.996 | 0.997 | 18.341 | Deleterious |
| 966 | 11 | 77190108 | G | A | Pathogenic | MYO7A | . | . | . | . | . | . | . | . | . | . | 11 | 77190108 | 77190108 | G | A | exonic | MYO7A | . | nonsynonymous SNV | MYO7A:NM_000260:exon29:c.G3719A:p.R1240Q,MYO7A:NM_001127180:exon29:c.G3719A:p.R1240Q | 11q13.5 | 0.0002 | rs111033178 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.48 | H | -4.81 | D | -3.72 | D | 0.941 | 7.370 | 34 | 0.999 | 0.996 | D | 1.034 | D | 0.980 | D | 0.646 | 0 | 4.44 | 0.917 | 0.988 | 0.998 | 0.979 | 15.307 | Deleterious |
| 967 | 11 | 77207370 | G | T | Pathogenic/Likely pathogenic | MYO7A | . | . | . | . | . | . | . | . | . | . | 11 | 77207370 | 77207370 | G | T | exonic | MYO7A | . | stopgain | MYO7A:NM_000260:exon42:c.G5824T:p.G1942X,MYO7A:NM_001127180:exon42:c.G5710T:p.G1904X | 11q13.5 | . | rs111033192 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.835 | 53 | 0.993 | 0.989 | D | . | . | . | . | 0.638 | 0 | 5.01 | 0.913 | 1.042 | 0.998 | 0.987 | 18.352 | Deleterious (FATHMM) |
| 968 | 11 | 77208472 | C | T | Pathogenic/Likely pathogenic | MYO7A | . | . | . | . | . | . | . | . | . | . | 11 | 77208472 | 77208472 | C | T | exonic | MYO7A | . | stopgain | MYO7A:NM_000260:exon43:c.C5899T:p.R1967X,MYO7A:NM_001127180:exon43:c.C5785T:p.R1929X | 11q13.5 | 8.1e-05 | rs376764423 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.558 | 46 | 0.998 | 0.882 | D | . | . | . | . | 0.554 | 0 | 4.29 | 0.871 | 0.892 | 0.998 | 0.992 | 10.186 | Deleterious (FATHMM) |
| 969 | 11 | 89191205 | G | T | Pathogenic | TYR | . | . | . | . | . | . | . | . | . | . | 11 | 89191205 | 89191205 | G | T | exonic | TYR | . | nonsynonymous SNV | TYR:NM_000372:exon2:c.G823T:p.V275F | 11q14.3 | . | rs104894314 | 0.002 | D | 0.782 | P | 0.42 | B | 0.098 | N | 0.000 | A | 1.795 | L | -4.36 | D | -2.79 | D | 0.777 | 3.131 | 22.6 | 0.985 | 0.056 | N | 0.435 | D | 0.831 | D | 0.487 | 0 | -8.22 | -0.655 | -0.584 | 0.055 | 0.459 | 17.793 | Deleterious |
| 970 | 11 | 89227816 | T | A | Pathogenic/Likely pathogenic, not provided | TYR | . | . | . | . | . | . | . | . | . | . | 11 | 89227816 | 89227816 | T | A | intronic | TYR | . | . | . | 11q14.3 | 0.0008 | rs61754381 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 971 | 11 | 89227904 | C | A | Pathogenic | TYR | . | . | . | . | . | . | . | . | . | . | 11 | 89227904 | 89227904 | C | A | exonic | TYR | . | nonsynonymous SNV | TYR:NM_000372:exon3:c.C1118A:p.T373K | 11q14.3 | 0.0005 | rs61754388 | 0.001 | D | 0.001 | B | 0.004 | B | 0.000 | N | 0.993 | A | 2.635 | M | -4.83 | D | -3.79 | D | 0.849 | 4.959 | 25.0 | 0.975 | 0.974 | D | 1.021 | D | 0.915 | D | 0.487 | 0 | 4.45 | 0.871 | 0.852 | 1.000 | 1.000 | 15.213 | Deleterious |
| 972 | 11 | 89284792 | C | T | Pathogenic | TYR | . | . | . | . | . | . | . | . | . | . | 11 | 89284792 | 89284792 | C | T | exonic | TYR | . | stopgain | TYR:NM_000372:exon4:c.C1204T:p.R402X | 11q14.3 | . | rs62645917 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.454 | 51 | 0.997 | 0.868 | D | . | . | . | . | 0.487 | 0 | 4.68 | 0.871 | 0.932 | 0.997 | 0.999 | 11.145 | Deleterious (FATHMM) |
| 973 | 11 | 94447276 | C | T | Pathogenic | MRE11A | . | . | . | . | . | . | . | . | . | . | 11 | 94447276 | 94447276 | C | T | exonic | MRE11A | . | synonymous SNV | MRE11A:NM_005590:exon15:c.C1726A:p.R576R,MRE11A:NM_005591:exon15:c.C1726A:p.R576R | 11q21 | . | rs774277300 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 974 | 11 | 94467821 | C | T | Pathogenic | MRE11A | . | . | . | . | . | . | . | . | . | . | 11 | 94467821 | 94467821 | C | T | exonic | MRE11A | . | synonymous SNV | MRE11A:NM_005590:exon10:c.C1090A:p.R364R,MRE11A:NM_005591:exon10:c.C1090A:p.R364R | 11q21 | . | rs371077728 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 975 | 11 | 94471572 | T | A | Pathogenic | MRE11A | . | . | . | . | . | . | . | . | . | . | 11 | 94471572 | 94471572 | T | A | splicing | MRE11A | NM_005590:exon8:c.845+2A>T,NM_005591:exon8:c.845+2A>T | . | . | 11q21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 976 | 11 | 108138934 | A | G | Pathogenic | ACAT1 | . | . | . | . | . | . | . | . | . | . | 11 | 108138934 | 108138934 | A | G | exonic | ACAT1 | . | nonsynonymous SNV | ACAT1:NM_000019:exon6:c.A472G:p.N158D | 11q22.3 | 7.7e-05 | rs148639841 | 0.005 | D | 0.931 | P | 0.716 | P | 0.000 | D | 1 | D | 2.92 | M | -2.67 | D | -4.4 | D | 0.435 | 6.031 | 28.0 | 0.997 | 0.969 | D | 0.005 | D | 0.463 | T | 0.706 | 0 | 5.74 | 1.062 | 1.176 | 1.000 | 0.998 | 16.043 | Tolerated |
| 977 | 11 | 108227626 | T | C | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108227626 | 108227626 | T | C | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon2:c.T2C:p.M1T | 11q22.3 | . | rs786203606 | 0.0 | D | 0.956 | P | 0.549 | P | 0.000 | D | 1 | D | . | . | 4.45 | T | -1.87 | N | 0.975 | 4.960 | 25.0 | 0.991 | 0.978 | D | -0.800 | T | 0.153 | T | 0.732 | 0 | 5.08 | 0.991 | 1.061 | 0.990 | 1.000 | 15.148 | Tolerated |
| 978 | 11 | 108227627 | G | A | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108227627 | 108227627 | G | A | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon2:c.G3A:p.M1I | 11q22.3 | . | rs781404312 | 0.0 | D | 0.872 | P | 0.396 | B | 0.000 | D | 1 | D | . | . | 4.53 | T | -1.54 | N | 0.974 | 5.865 | 27.3 | 0.997 | 0.965 | D | -0.921 | T | 0.115 | T | 0.732 | 0 | 5.08 | 0.917 | 1.048 | 0.994 | 1.000 | 18.841 | Tolerated |
| 979 | 11 | 108227806 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108227806 | 108227806 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon3:c.C103T:p.R35X | 11q22.3 | . | rs55861249 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.377 | 37 | 0.998 | 0.932 | D | . | . | . | . | 0.732 | 0 | 5.29 | 0.871 | 0.060 | 0.995 | 0.996 | 14.161 | Deleterious (FATHMM) |
| 980 | 11 | 108227873 | G | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108227873 | 108227873 | G | A | exonic | ATM | . | stopgain | ATM:NM_000051:exon3:c.G170A:p.W57X | 11q22.3 | . | rs587779818 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.574 | 37 | 0.988 | 0.993 | D | . | . | . | . | 0.706 | 0 | 5.14 | 0.917 | 1.048 | 1.000 | 1.000 | 18.966 | Deleterious (FATHMM) |
| 981 | 11 | 108235839 | G | A | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108235839 | 108235839 | G | A | intronic | ATM | . | . | . | 11q22.3 | . | rs796051858 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 1.136 | 11.41 | 0.738 | 0.881 | D | . | . | . | . | 0.099 | 0 | 4.9 | 0.917 | 0.998 | 0.984 | 0.970 | 14.298 | Deleterious (FATHMM) |
| 982 | 11 | 108244867 | C | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108244867 | 108244867 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon7:c.C742T:p.R248X | 11q22.3 | . | rs730881336 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.010 | 37 | 0.997 | 0.948 | D | . | . | . | . | 0.732 | 0 | 4.6 | 0.871 | 0.935 | 0.955 | 0.991 | 15.848 | Deleterious (FATHMM) |
| 983 | 11 | 108244873 | C | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108244873 | 108244873 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon7:c.C748T:p.R250X | 11q22.3 | . | rs772821016 | . | . | . | . | . | . | 0.103 | N | 1 | A | . | . | . | . | . | . | . | 9.892 | 36 | 0.997 | 0.889 | D | . | . | . | . | 0.732 | 0 | 3.43 | 0.871 | 0.935 | 0.933 | 0.938 | 10.650 | Deleterious (FATHMM) |
| 984 | 11 | 108244927 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108244927 | 108244927 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon7:c.C802T:p.Q268X | 11q22.3 | . | rs557012154 | . | . | . | . | . | . | 0.002 | N | 1 | A | . | . | . | . | . | . | . | 10.739 | 36 | 0.998 | 0.911 | D | . | . | . | . | 0.732 | 0 | 5.33 | 0.871 | 0.935 | 1.000 | 1.000 | 14.249 | Deleterious (FATHMM) |
| 985 | 11 | 108244954 | G | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108244954 | 108244954 | G | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon7:c.G829T:p.E277X | 11q22.3 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.293 | 39 | 0.997 | 0.993 | D | . | . | . | . | 0.707 | 0 | 5.33 | 0.917 | 1.048 | 0.999 | 1.000 | 19.381 | Deleterious (FATHMM) |
| 986 | 11 | 108245027 | G | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108245027 | 108245027 | G | A | splicing | ATM | NM_000051:exon7:c.901+1G>A | . | . | 11q22.3 | . | rs748840480 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.762 | 24.7 | 0.991 | 0.990 | D | . | . | . | . | 0.295 | 0 | 5.15 | 0.917 | 0.953 | 0.970 | 0.974 | 12.372 | Deleterious (FATHMM) |
| 987 | 11 | 108248977 | C | G | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108248977 | 108248977 | C | G | exonic | ATM | . | stopgain | ATM:NM_000051:exon9:c.C1110G:p.Y370X | 11q22.3 | . | rs376170600 | . | . | . | . | . | . | 0.012 | N | 1 | A | . | . | . | . | . | . | . | 3.133 | 22.6 | 0.906 | 0.155 | N | . | . | . | . | 0.563 | 0 | -7.76 | -1.741 | -1.295 | 0.724 | 0.027 | 20.640 | |
| 988 | 11 | 108250804 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108250804 | 108250804 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon10:c.C1339T:p.R447X | 11q22.3 | . | rs587779815 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.268 | 39 | 0.998 | 0.963 | D | . | . | . | . | 0.732 | 0 | 6.08 | 0.871 | 0.892 | 0.981 | 0.996 | 15.396 | Deleterious (FATHMM) |
| 989 | 11 | 108251073 | G | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108251073 | 108251073 | G | T | splicing | ATM | NM_000051:exon10:c.1607+1G>T | . | . | 11q22.3 | . | rs772926890 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.235 | 25.6 | 0.994 | 0.998 | D | . | . | . | . | 0.295 | 0 | 6.17 | 0.917 | 1.048 | 0.855 | 0.949 | 20.879 | Deleterious (FATHMM) |
| 990 | 11 | 108252914 | T | G | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108252914 | 108252914 | T | G | splicing | ATM | NM_000051:exon12:c.1898+2T>G | . | . | 11q22.3 | . | rs587782124 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.012 | 25.1 | 0.985 | 0.994 | D | . | . | . | . | 0.106 | 0 | 5.75 | 0.991 | 1.011 | 0.997 | 0.998 | 16.066 | Deleterious (FATHMM) |
| 991 | 11 | 108253938 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108253938 | 108253938 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon13:c.C2023T:p.Q675X | 11q22.3 | . | rs777849257 | . | . | . | . | . | . | 0.573 | N | 1 | A | . | . | . | . | . | . | . | 6.901 | 33 | 0.994 | 0.075 | N | . | . | . | . | 0.707 | 0 | 5.19 | 0.871 | 0.935 | 0.008 | 0.005 | 10.359 | Deleterious (DANN) |
| 992 | 11 | 108254013 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108254013 | 108254013 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon13:c.C2098T:p.Q700X | 11q22.3 | . | rs786202743 | . | . | . | . | . | . | 0.031 | N | 1 | A | . | . | . | . | . | . | . | 10.265 | 36 | 0.996 | 0.820 | D | . | . | . | . | 0.707 | 0 | 5.19 | 0.871 | 0.935 | 0.996 | 0.986 | 12.371 | Deleterious (FATHMM) |
| 993 | 11 | 108257471 | T | G | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108257471 | 108257471 | T | G | intronic | ATM | . | . | . | 11q22.3 | . | rs730881346 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 994 | 11 | 108259022 | C | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108259022 | 108259022 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon16:c.C2413T:p.R805X | 11q22.3 | . | rs780619951 | . | . | . | . | . | . | 0.004 | N | 1 | A | . | . | . | . | . | . | . | 9.080 | 35 | 0.996 | 0.424 | N | . | . | . | . | 0.732 | 0 | 2.87 | -0.006 | 0.068 | 0.988 | 0.857 | 15.183 | Deleterious (DANN) |
| 995 | 11 | 108259035 | C | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108259035 | 108259035 | C | A | exonic | ATM | . | stopgain | ATM:NM_000051:exon16:c.C2426A:p.S809X | 11q22.3 | . | rs730881348 | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 11.603 | 37 | 0.995 | 0.975 | D | . | . | . | . | 0.732 | 0 | 5.8 | 0.871 | 0.935 | 0.998 | 0.997 | 20.071 | Deleterious (FATHMM) |
| 996 | 11 | 108267344 | T | C | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108267344 | 108267344 | T | C | splicing | ATM | NM_000051:exon17:c.2638+2T>C | . | . | 11q22.3 | . | rs587779826 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.792 | 23.4 | 0.959 | 0.946 | D | . | . | . | . | 0.106 | 0 | 4.89 | 0.673 | 1.011 | 0.414 | 0.753 | 13.628 | Deleterious (FATHMM) |
| 997 | 11 | 108271147 | G | C | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108271147 | 108271147 | G | C | splicing | ATM | NM_000051:exon19:c.2921+1G>C | . | . | 11q22.3 | . | rs587781558 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.471 | 26.2 | 0.994 | 0.992 | D | . | . | . | . | 0.322 | 0 | 5.73 | 0.917 | 1.048 | 1.000 | 1.000 | 20.270 | Deleterious (FATHMM) |
| 998 | 11 | 108271147 | G | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108271147 | 108271147 | G | T | splicing | ATM | NM_000051:exon19:c.2921+1G>T | . | . | 11q22.3 | . | rs587781558 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.571 | 26.4 | 0.994 | 0.991 | D | . | . | . | . | 0.322 | 0 | 5.73 | 0.917 | 1.048 | 1.000 | 1.000 | 20.270 | Deleterious (FATHMM) |
| 999 | 11 | 108271147 | G | A | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108271147 | 108271147 | G | A | splicing | ATM | NM_000051:exon19:c.2921+1G>A | . | . | 11q22.3 | . | rs587781558 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.815 | 27.2 | 0.994 | 0.990 | D | . | . | . | . | 0.322 | 0 | 5.73 | 0.917 | 1.048 | 1.000 | 1.000 | 20.270 | Deleterious (FATHMM) |
| 1000 | 11 | 108271378 | C | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108271378 | 108271378 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon20:c.C3049T:p.Q1017X | 11q22.3 | . | rs730881388 | . | . | . | . | . | . | 0.113 | N | 1 | A | . | . | . | . | . | . | . | 11.504 | 37 | 0.997 | 0.911 | D | . | . | . | . | 0.707 | 0 | 5.8 | 0.871 | 0.070 | 0.999 | 0.956 | 14.232 | Deleterious (FATHMM) |
| 1001 | 11 | 108272720 | A | G | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108272720 | 108272720 | A | G | splicing | ATM | NM_000051:exon22:c.3154-2A>G | . | . | 11q22.3 | . | rs730881357 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.901 | 23.5 | 0.988 | 0.985 | D | . | . | . | . | 0.156 | 0 | 5.63 | 1.062 | 1.199 | 0.824 | 0.655 | 16.138 | Deleterious (FATHMM) |
| 1002 | 11 | 108279510 | G | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108279510 | 108279510 | G | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon23:c.G3304T:p.G1102X | 11q22.3 | . | rs147557621 | . | . | . | . | . | . | 0.664 | N | 1 | A | . | . | . | . | . | . | . | 7.936 | 35 | 0.901 | 0.193 | N | . | . | . | . | 0.732 | 0 | -0.183 | 0.913 | -0.319 | 0.026 | 0.372 | 5.345 | |
| 1003 | 11 | 108279578 | C | G | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108279578 | 108279578 | C | G | exonic | ATM | . | stopgain | ATM:NM_000051:exon23:c.C3372G:p.Y1124X | 11q22.3 | . | rs587779833 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.958 | 36 | 0.996 | 0.872 | D | . | . | . | . | 0.732 | 0 | 2.43 | 0.031 | 0.890 | 0.959 | 0.885 | 12.545 | Deleterious (FATHMM) |
| 1004 | 11 | 108281168 | G | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108281168 | 108281168 | G | A | exonic | ATM | . | synonymous SNV | ATM:NM_000051:exon24:c.G3576A:p.K1192K | 11q22.3 | . | rs587776551 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1005 | 11 | 108282796 | G | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108282796 | 108282796 | G | A | exonic | ATM | . | stopgain | ATM:NM_000051:exon25:c.G3663A:p.W1221X | 11q22.3 | . | rs864622490 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.057 | 41 | 0.994 | 0.987 | D | . | . | . | . | 0.732 | 0 | 5.38 | 0.917 | 0.998 | 0.997 | 1.000 | 19.123 | Deleterious (FATHMM) |
| 1006 | 11 | 108284316 | G | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108284316 | 108284316 | G | A | exonic | ATM | . | stopgain | ATM:NM_000051:exon26:c.G3836A:p.W1279X | 11q22.3 | . | rs587779836 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.805 | 40 | 0.993 | 0.992 | D | . | . | . | . | 0.707 | 0 | 5.68 | 0.917 | 1.048 | 0.979 | 0.989 | 19.791 | Deleterious (FATHMM) |
| 1007 | 11 | 108284474 | G | A | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108284474 | 108284474 | G | A | splicing | ATM | NM_000051:exon26:c.3993+1G>A | . | . | 11q22.3 | . | rs200196781 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.471 | 26.2 | 0.991 | 0.998 | D | . | . | . | . | 0.295 | 0 | 5.43 | 0.917 | 1.048 | 0.993 | 0.949 | 19.230 | Deleterious (FATHMM) |
| 1008 | 11 | 108287598 | A | G | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108287598 | 108287598 | A | G | splicing | ATM | NM_000051:exon27:c.3994-2A>G | . | . | 11q22.3 | . | rs587782276 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.124 | 25.4 | 0.986 | 0.974 | D | . | . | . | . | 0.322 | 0 | 6.06 | 1.062 | 1.199 | 0.998 | 0.989 | 12.247 | Deleterious (FATHMM) |
| 1009 | 11 | 108289065 | A | T | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108289065 | 108289065 | A | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon28:c.A4198T:p.K1400X | 11q22.3 | . | rs587781950 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.245 | 39 | 0.994 | 0.940 | D | . | . | . | . | 0.707 | 0 | 5.36 | 1.062 | 1.194 | 0.999 | 0.989 | 11.355 | Deleterious (FATHMM) |
| 1010 | 11 | 108293436 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108293436 | 108293436 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon31:c.C4735T:p.Q1579X | 11q22.3 | . | . | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 12.698 | 40 | 0.998 | 0.947 | D | . | . | . | . | 0.732 | 0 | 5.31 | 0.871 | 0.935 | 0.998 | 1.000 | 19.335 | Deleterious (FATHMM) |
| 1011 | 11 | 108293479 | T | C | Pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108293479 | 108293479 | T | C | splicing | ATM | NM_000051:exon31:c.4776+2T>C | . | . | 11q22.3 | . | rs587781927 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.962 | 25.0 | 0.989 | 0.982 | D | . | . | . | . | 0.156 | 0 | 5.31 | 0.991 | 1.061 | 0.994 | 0.999 | 15.553 | Deleterious (FATHMM) |
| 1012 | 11 | 108301658 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108301658 | 108301658 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon35:c.C5188T:p.R1730X | 11q22.3 | . | rs764389018 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.317 | 41 | 0.997 | 0.851 | D | . | . | . | . | 0.745 | 0 | 3.95 | 0.871 | 0.892 | 0.998 | 0.998 | 12.809 | Deleterious (FATHMM) |
| 1013 | 11 | 108304822 | C | T | Pathogenic/Likely pathogenic | ATM | . | . | . | . | . | . | . | . | . | . | 11 | 108304822 | 108304822 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon37:c.C5644T:p.R1882X | 11q22.3 | . | rs786204433 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.835 | 38 | 0.997 | 0.913 | D | . | . | . | . | 0.732 | 0 | 3.59 | 0.871 | 0.892 | 0.988 | 0.843 | 13.771 | Deleterious (FATHMM) |
| 1014 | 11 | 108310287 | A | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108310287 | 108310287 | A | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon39:c.A5890T:p.K1964X | 11q22.3 | . | rs201963507 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 14.240 | 45 | 0.995 | 0.989 | D | . | . | . | . | 0.732 | 0 | 4.57 | 1.062 | 1.088 | 0.998 | 0.997 | 12.690 | Deleterious (FATHMM) |
| 1015 | 11 | 108310305 | C | T | Pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108310305 | 108310305 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon39:c.C5908T:p.Q1970X | 11q22.3 | . | rs587781722 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 13.136 | 41 | 0.996 | 0.960 | D | . | . | . | . | 0.732 | 0 | 4.68 | 0.791 | 0.768 | 0.976 | 0.986 | 14.995 | Deleterious (FATHMM) |
| 1016 | 11 | 108312424 | G | T | Pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108312424 | 108312424 | G | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon40:c.G5932T:p.E1978X | 11q22.3 | . | rs587779852 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 15.852 | 53 | 0.998 | 0.991 | D | . | . | . | . | 0.732 | 0 | 5.33 | 0.917 | 0.953 | 0.998 | 0.998 | 19.378 | Deleterious (FATHMM) |
| 1017 | 11 | 108315911 | G | A | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108315911 | 108315911 | G | A | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon41:c.G6095A:p.R2032K | 11q22.3 | 7.7e-05 | rs139770721 | 0.018 | D | 0.994 | D | 0.856 | P | 0.000 | D | 1 | D | 2.28 | M | 4.83 | T | -2.61 | D | 0.863 | 5.473 | 26.2 | 0.996 | 0.993 | D | -1.120 | T | 0.022 | T | 0.707 | 0 | 5.33 | 0.917 | 0.998 | 0.845 | 0.988 | 17.196 | Tolerated |
| 1018 | 11 | 108316015 | C | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108316015 | 108316015 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon42:c.C6100T:p.R2034X | 11q22.3 | . | rs532480170 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 10.638 | 36 | 0.992 | 0.824 | D | . | . | . | . | 0.707 | 0 | -1.25 | -0.782 | 0.807 | 0.183 | 0.951 | 15.630 | Deleterious (FATHMM) |
| 1019 | 11 | 108321421 | G | A | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108321421 | 108321421 | G | A | splicing | ATM | NM_000051:exon45:c.6572+1G>A | . | . | 11q22.3 | . | rs587779856 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.942 | 27.6 | 0.995 | 0.992 | D | . | . | . | . | 0.295 | 0 | 5.79 | 0.917 | 0.998 | 0.844 | 0.957 | 20.090 | Deleterious (FATHMM) |
| 1020 | 11 | 108325416 | C | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108325416 | 108325416 | C | T | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon46:c.C6679T:p.R2227C | 11q22.3 | . | rs564652222 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.32 | M | -2.41 | D | -7.68 | D | 0.992 | 8.262 | 35 | 0.999 | 0.980 | D | 0.803 | D | 0.819 | D | 0.732 | 0 | 5.03 | 0.871 | 0.935 | 0.982 | 0.992 | 18.733 | Deleterious |
| 1021 | 11 | 108329027 | G | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108329027 | 108329027 | G | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon49:c.G7096T:p.E2366X | 11q22.3 | . | rs587781672 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 13.392 | 42 | 0.996 | 0.983 | D | . | . | . | . | 0.732 | 0 | 2.74 | 0.034 | -0.197 | 0.995 | 0.989 | 8.345 | Deleterious (FATHMM) |
| 1022 | 11 | 108329202 | T | G | Pathogenic, risk factor | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108329202 | 108329202 | T | G | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon49:c.T7271G:p.V2424G | 11q22.3 | 7.7e-05 | rs28904921 | 0.001 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | A | 2.19 | M | -0.81 | T | -4.76 | D | 0.961 | 6.174 | 28.6 | 0.997 | 0.988 | D | 0.211 | D | 0.568 | D | 0.732 | 0 | 5.54 | 0.991 | 1.061 | 0.998 | 1.000 | 15.684 | Deleterious |
| 1023 | 11 | 108330233 | C | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108330233 | 108330233 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon50:c.C7327T:p.R2443X | 11q22.3 | . | rs121434220 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.905 | 43 | 0.992 | 0.948 | D | . | . | . | . | 0.707 | 0 | -0.194 | -0.782 | 0.852 | 0.993 | 0.997 | 14.731 | Deleterious (FATHMM) |
| 1024 | 11 | 108330362 | C | T | Pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108330362 | 108330362 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon50:c.C7456T:p.R2486X | 11q22.3 | . | rs587779865 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 14.283 | 45 | 0.997 | 0.935 | D | . | . | . | . | 0.719 | 0 | 4.7 | 0.871 | 0.852 | 0.997 | 0.796 | 16.976 | Deleterious (FATHMM) |
| 1025 | 11 | 108331877 | A | C | Pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108331877 | 108331877 | A | C | splicing | ATM | NM_000051:exon52:c.7630-2A>C | . | . | 11q22.3 | . | rs587779866 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.377 | 24.1 | 0.992 | 0.982 | D | . | . | . | . | 0.295 | 0 | 5.32 | 1.062 | 1.076 | 0.941 | 0.971 | 15.296 | Deleterious (FATHMM) |
| 1026 | 11 | 108332037 | G | A | Pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108332037 | 108332037 | G | A | exonic | ATM | . | synonymous SNV | ATM:NM_000051:exon52:c.G7788A:p.E2596E | 11q22.3 | . | rs587780639 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1027 | 11 | 108332886 | G | A | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108332886 | 108332886 | G | A | exonic | ATM | . | stopgain | ATM:NM_000051:exon53:c.G7913A:p.W2638X | 11q22.3 | 7.7e-05 | rs377349459 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 14.874 | 48 | 0.985 | 0.947 | D | . | . | . | . | 0.732 | 0 | 5.09 | 0.917 | 0.953 | 0.996 | 0.998 | 18.864 | Deleterious (FATHMM) |
| 1028 | 11 | 108335104 | G | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108335104 | 108335104 | G | T | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon55:c.G8146T:p.V2716F | 11q22.3 | . | rs730881385 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 1.295 | L | -2.38 | D | -3.85 | D | 0.838 | 6.256 | 28.9 | 0.996 | 0.987 | D | 0.453 | D | 0.753 | D | 0.732 | 0 | 5.67 | 0.917 | 1.048 | 0.986 | 0.967 | 19.777 | Deleterious |
| 1029 | 11 | 108335105 | T | C | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108335105 | 108335105 | T | C | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon55:c.T8147C:p.V2716A | 11q22.3 | . | rs587782652 | 0.0 | D | 0.994 | D | 0.993 | D | 0.000 | D | 1 | D | 1.925 | M | -2.35 | D | -3.39 | D | 0.951 | 5.487 | 26.2 | 0.999 | 0.984 | D | 0.717 | D | 0.789 | D | 0.732 | 0 | 5.67 | 0.991 | 1.061 | 0.978 | 0.958 | 15.919 | Deleterious |
| 1030 | 11 | 108335959 | A | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108335959 | 108335959 | A | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon56:c.A8266T:p.K2756X | 11q22.3 | 7.7e-05 | rs371638537 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 16.102 | 54 | 0.995 | 0.990 | D | . | . | . | . | 0.707 | 0 | 5.56 | 1.062 | 1.199 | 0.930 | 0.906 | 15.704 | Deleterious (FATHMM) |
| 1031 | 11 | 108343246 | G | A | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108343246 | 108343246 | G | A | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon57:c.G8293A:p.G2765S | 11q22.3 | . | rs748634900 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.98 | H | -1.52 | D | -5.17 | D | 0.983 | 6.903 | 33 | 0.998 | 0.992 | D | 0.858 | D | 0.807 | D | 0.732 | 0 | 5.56 | 0.917 | 1.048 | 0.997 | 1.000 | 19.879 | Deleterious |
| 1032 | 11 | 108343260 | G | A | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108343260 | 108343260 | G | A | exonic | ATM | . | stopgain | ATM:NM_000051:exon57:c.G8307A:p.W2769X | 11q22.3 | . | rs778269655 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 15.492 | 51 | 0.995 | 0.992 | D | . | . | . | . | 0.732 | 0 | 5.56 | 0.917 | 1.048 | 0.998 | 1.000 | 19.879 | Deleterious (FATHMM) |
| 1033 | 11 | 108345818 | C | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108345818 | 108345818 | C | T | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon58:c.C8494T:p.R2832C | 11q22.3 | . | rs587779872 | 0.001 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | D | 3.025 | M | -1.0 | T | -4.76 | D | 0.978 | 7.960 | 35 | 0.999 | 0.907 | D | 0.458 | D | 0.656 | D | 0.732 | 0 | 5.45 | 0.871 | 0.848 | 1.000 | 1.000 | 19.287 | Deleterious |
| 1034 | 11 | 108353881 | G | C | Pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108353881 | 108353881 | G | C | splicing | ATM | NM_000051:exon60:c.8786+1G>C | . | . | 11q22.3 | . | rs17174393 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.975 | 25.1 | 0.994 | 0.996 | D | . | . | . | . | 0.295 | 0 | 5.42 | 0.917 | 0.953 | 0.971 | 0.907 | 19.213 | Deleterious (FATHMM) |
| 1035 | 11 | 108353881 | G | A | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108353881 | 108353881 | G | A | splicing | ATM | NM_000051:exon60:c.8786+1G>A | . | . | 11q22.3 | . | rs17174393 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.509 | 26.3 | 0.994 | 0.995 | D | . | . | . | . | 0.295 | 0 | 5.42 | 0.917 | 0.953 | 0.971 | 0.907 | 19.213 | Deleterious (FATHMM) |
| 1036 | 11 | 108365208 | C | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108365208 | 108365208 | C | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon62:c.C8977T:p.R2993X | 11q22.3 | . | rs770641163 | . | . | . | . | . | . | 0.012 | N | 1 | D | . | . | . | . | . | . | . | 14.610 | 47 | 0.989 | 0.969 | D | . | . | . | . | 0.706 | 0 | 3.44 | -0.058 | -0.489 | 0.866 | 0.610 | 9.694 | Deleterious (FATHMM) |
| 1037 | 11 | 108365356 | G | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108365356 | 108365356 | G | T | exonic | ATM | . | stopgain | ATM:NM_000051:exon63:c.G9019T:p.E3007X | 11q22.3 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 15.749 | 52 | 0.996 | 0.994 | D | . | . | . | . | 0.706 | 0 | 5.22 | 0.917 | 0.953 | 0.993 | 0.943 | 19.035 | Deleterious (FATHMM) |
| 1038 | 11 | 108365359 | C | T | Pathogenic/Likely pathogenic | ATM|C11orf65 | . | . | . | . | . | . | . | . | . | . | 11 | 108365359 | 108365359 | C | T | exonic | ATM | . | nonsynonymous SNV | ATM:NM_000051:exon63:c.C9022T:p.R3008C | 11q22.3 | . | rs587782292 | 0.001 | D | 1.0 | D | 0.988 | D | 0.000 | D | 1 | D | 2.545 | M | 4.35 | T | -6.32 | D | 0.963 | 7.496 | 34 | 0.999 | 0.979 | D | -1.211 | T | 0.035 | T | 0.706 | 0 | 5.22 | 0.871 | 0.852 | 0.981 | 0.899 | 19.035 | Tolerated |
| 1039 | 11 | 112088939 | C | T | Pathogenic | SDHD | . | . | . | . | . | . | . | . | . | . | 11 | 112088939 | 112088939 | C | T | exonic | SDHD | . | nonsynonymous SNV | SDHD:NM_001276504:exon2:c.C125T:p.P42L,SDHD:NM_001276506:exon3:c.C242T:p.P81L,SDHD:NM_003002:exon3:c.C242T:p.P81L | 11q23.1 | . | rs80338844 | 0.045 | D | 0.997 | D | 0.751 | P | 0.000 | D | 1 | A | 3.41 | M | -4.32 | D | -8.54 | D | 0.968 | 7.324 | 34 | 0.996 | 0.976 | D | 1.096 | D | 0.964 | D | 0.707 | 0 | 5.04 | -0.011 | -0.014 | 0.633 | 0.838 | 18.375 | Deleterious |
| 1040 | 11 | 112094831 | A | G | Pathogenic | SDHD | . | . | . | . | . | . | . | . | . | . | 11 | 112094831 | 112094831 | A | G | exonic | SDHD | . | nonsynonymous SNV | SDHD:NM_001276503:exon3:c.A196G:p.M66V,SDHD:NM_001276504:exon3:c.A224G:p.Y75C,SDHD:NM_003002:exon4:c.A341G:p.Y114C | 11q23.1 | . | rs104894304 | 0.022 | D | 0.964 | D | 0.844 | P | 0.000 | D | 1 | A | 2.51 | M | -6.69 | D | -7.31 | D | 0.997 | 5.021 | 25.2 | 0.951 | 0.984 | D | 1.001 | D | 0.987 | D | 0.707 | 0 | 4.85 | 1.062 | 1.194 | 0.970 | 0.996 | 14.585 | Deleterious |
| 1041 | 11 | 119026979 | C | T | Pathogenic/Likely pathogenic | SLC37A4 | . | . | . | . | . | . | . | . | . | . | 11 | 119026979 | 119026979 | C | T | exonic | SLC37A4 | . | nonsynonymous SNV | SLC37A4:NM_001164280:exon5:c.C742A:p.Q248K,SLC37A4:NM_001467:exon6:c.C742A:p.Q248K,SLC37A4:NM_001164277:exon7:c.C742A:p.Q248K,SLC37A4:NM_001164278:exon7:c.C742A:p.Q248K,SLC37A4:NM_001164279:exon7:c.C523A:p.Q175K | 11q23.3 | . | . | . | . | 0.853 | P | 0.574 | P | . | . | . | . | 2.215 | M | . | . | . | . | 0.898 | 6.031 | 28.0 | 0.929 | 0.981 | D | . | . | . | . | 0.257 | 0 | 4.71 | 0.917 | 0.943 | 1.000 | 1.000 | 17.852 | Deleterious (FATHMM) |
| 1042 | 11 | 119278165 | G | T | Pathogenic | CBL | . | . | . | . | . | . | . | . | . | . | 11 | 119278165 | 119278165 | G | T | splicing | CBL | NM_005188:exon8:c.1096-1G>T | . | . | 11q23.3 | . | rs397517076 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.489 | 26.2 | 0.995 | 0.995 | D | . | . | . | . | 0.156 | 0 | 5.65 | 0.917 | 1.048 | 0.947 | 0.978 | 20.106 | Deleterious (FATHMM) |
| 1043 | 11 | 119278170 | A | C | Pathogenic | CBL | . | . | . | . | . | . | . | . | . | . | 11 | 119278170 | 119278170 | A | C | exonic | CBL | . | nonsynonymous SNV | CBL:NM_005188:exon8:c.A1100C:p.Q367P | 11q23.3 | . | rs267606704 | 0.001 | D | 0.998 | D | 0.997 | D | 0.000 | D | 1 | D | 2.325 | M | -3.8 | D | -5.62 | D | 0.957 | 3.355 | 22.9 | 0.992 | 0.990 | D | 0.998 | D | 0.909 | D | 0.707 | 0 | 4.51 | 1.062 | 1.199 | 1.000 | 1.000 | 13.162 | Deleterious |
| 1044 | 11 | 119278508 | A | G | Pathogenic/Likely pathogenic | CBL | . | . | . | . | . | . | . | . | . | . | 11 | 119278508 | 119278508 | A | G | splicing | CBL | NM_005188:exon9:c.1228-2A>G | . | . | 11q23.3 | . | rs727504426 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.272 | 25.7 | 0.995 | 0.994 | D | . | . | . | . | 0.156 | 0 | 5.83 | 1.062 | 1.199 | 0.981 | 0.983 | 16.215 | Deleterious (FATHMM) |
| 1045 | 11 | 134262556 | G | A | Pathogenic/Likely pathogenic | ACAD8 | . | . | . | . | . | . | . | . | . | . | 11 | 134262556 | 134262556 | G | A | exonic | ACAD8 | . | nonsynonymous SNV | ACAD8:NM_014384:exon10:c.G1129A:p.G377S | 11q25 | 0.0002 | rs121908419 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.81 | H | -5.38 | D | -5.59 | D | 0.996 | 7.794 | 35 | 0.999 | 0.981 | D | 1.039 | D | 0.985 | D | 0.707 | 0 | 5.75 | 0.917 | 0.953 | 0.999 | 0.988 | 19.952 | Deleterious |
| 1046 | 12 | 2504538 | G | C | Pathogenic | CACNA1C | . | . | . | . | . | . | . | . | . | . | 12 | 2504538 | 2504538 | G | C | exonic | CACNA1C | . | nonsynonymous SNV | CACNA1C:NM_001129840:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167623:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167624:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167625:exon8:c.G1216C:p.G406R | 12p13.33 | . | rs786205745 | 0.005 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.865 | M | -4.38 | D | -6.8 | D | 0.835 | 2.040 | 16.46 | 0.999 | 0.989 | D | 1.097 | D | 0.953 | D | 0.487 | 0 | 4.94 | 0.917 | 1.048 | 1.000 | 1.000 | 18.362 | Deleterious |
| 1047 | 12 | 2504944 | G | A | Pathogenic | CACNA1C | . | . | . | . | . | . | . | . | . | . | 12 | 2504944 | 2504944 | G | A | exonic | CACNA1C | . | nonsynonymous SNV | CACNA1C:NM_000719:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129827:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129829:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129830:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129831:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129832:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129833:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129834:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129835:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129836:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129837:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129838:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129839:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129841:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129842:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129843:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129844:exon8:c.G1207A:p.G403R,CACNA1C:NM_001129846:exon8:c.G1216A:p.G406R,CACNA1C:NM_199460:exon8:c.G1216A:p.G406R | 12p13.33 | . | rs79891110 | 0.005 | D | 1.0 | D | 1.0 | D | . | . | 1 | A | 3.16 | M | -4.38 | D | -6.66 | D | 0.974 | 6.649 | 32 | 0.999 | 0.996 | D | 1.095 | D | 0.960 | D | 0.487 | 0 | 5.27 | 0.917 | 1.048 | 1.000 | 1.000 | 19.098 | Deleterious |
| 1048 | 12 | 2566465 | C | T | Pathogenic/Likely pathogenic | CACNA1C | . | . | . | . | . | . | . | . | . | . | 12 | 2566465 | 2566465 | C | T | exonic | CACNA1C | . | nonsynonymous SNV | CACNA1C:NM_000719:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129827:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129829:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129830:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129831:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129832:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129833:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129834:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129835:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129836:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129837:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129838:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129839:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129840:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129841:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129842:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129843:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129844:exon12:c.C1543T:p.R515C,CACNA1C:NM_001129846:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167623:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167624:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167625:exon12:c.C1552T:p.R518C,CACNA1C:NM_199460:exon12:c.C1552T:p.R518C | 12p13.33 | . | rs786205748 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.865 | H | -3.33 | D | -6.3 | D | 0.905 | 7.187 | 34 | 0.999 | 0.927 | D | 1.062 | D | 0.925 | D | 0.554 | 0 | 4.41 | 0.871 | 0.038 | 0.983 | 0.142 | 13.122 | Deleterious |
| 1049 | 12 | 6034812 | G | A | Pathogenic | VWF | . | . | . | . | . | . | . | . | . | . | 12 | 6034812 | 6034812 | G | A | exonic | VWF | . | nonsynonymous SNV | VWF:NM_000552:exon20:c.G2561T:p.R854L | 12p13.31 | . | . | 0.004 | D | 1.0 | D | 0.997 | D | 0.004 | N | 1 | D | 3.35 | M | -0.07 | T | -6.52 | D | 0.899 | 8.152 | 35 | 0.999 | 0.947 | D | 0.239 | D | 0.539 | D | 0.672 | 0 | 5.56 | 0.871 | 0.892 | 0.776 | 1.000 | 17.027 | Deleterious |
| 1050 | 12 | 6464888 | T | G | Pathogenic | VAMP1|TAPBPL | . | . | . | . | . | . | . | . | . | . | 12 | 6464888 | 6464888 | T | G | exonic;splicing | VAMP1;VAMP1 | NM_014231:exon4:c.340+2A>C,NM_016830:exon4:c.340+2A>C,NM_001297438:exon4:c.340+2A>C | synonymous SNV | VAMP1:NM_199245:exon4:c.T342C:p.S114S | 12p13.31 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.508 | 26.3 | 0.995 | 0.987 | D | . | . | . | . | 0.707 | 0 | 5.73 | 1.062 | 1.199 | 1.000 | 1.000 | 16.017 | Deleterious (FATHMM) |
| 1051 | 12 | 8605391 | G | A | Pathogenic/Likely pathogenic | AICDA | . | . | . | . | . | . | . | . | . | . | 12 | 8605391 | 8605391 | G | A | exonic | AICDA | . | nonsynonymous SNV | AICDA:NM_020661:exon3:c.G251T:p.W84L | 12p13.31 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.32 | M | 0.04 | T | -12.75 | D | 0.952 | 7.198 | 34 | 0.988 | 0.994 | D | 0.286 | D | 0.543 | D | 0.672 | 0 | 5.32 | 0.871 | 0.935 | 0.999 | 1.000 | 17.562 | Deleterious |
| 1052 | 12 | 25209896 | T | G | Pathogenic/Likely pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25209896 | 25209896 | T | G | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon5:c.T466C:p.F156L | 12p12.1 | . | . | 0.008 | D | 0.962 | D | 0.687 | P | . | . | 1 | D | . | . | -1.16 | T | -0.61 | N | 0.969 | 2.382 | 18.70 | 0.995 | 0.995 | D | 0.325 | D | 0.607 | D | 0.732 | 0 | 5.43 | 1.062 | 1.113 | 1.000 | 1.000 | 14.658 | Deleterious |
| 1053 | 12 | 25209904 | A | G | Pathogenic/Likely pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25209904 | 25209904 | A | G | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon5:c.A458C:p.D153A | 12p12.1 | . | . | 0.004 | D | 0.766 | P | 0.234 | B | . | . | 1 | D | . | . | -1.05 | T | -0.95 | N | 0.925 | 2.384 | 18.72 | 0.993 | 0.993 | D | -0.203 | T | 0.385 | T | 0.732 | 0 | 5.87 | 0.991 | 0.988 | 0.999 | 0.999 | 14.007 | Tolerated |
| 1054 | 12 | 25209904 | A | T | Pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25209904 | 25209904 | A | T | exonic | KRAS | . | synonymous SNV | KRAS:NM_004985:exon5:c.A458A:p.D153D | 12p12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1055 | 12 | 25227345 | G | T | Pathogenic/Likely pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25227345 | 25227345 | G | T | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon3:c.G179A:p.G60D,KRAS:NM_033360:exon3:c.G179A:p.G60D | 12p12.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | N | 1 | D | 4.445 | H | -3.26 | D | -6.56 | D | 0.933 | 6.304 | 29.1 | 0.999 | 0.980 | D | 1.100 | D | 0.943 | D | 0.722 | 0 | 4.88 | 0.871 | 0.919 | 1.000 | 1.000 | 15.570 | Deleterious |
| 1056 | 12 | 25227346 | G | C | Pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25227346 | 25227346 | G | C | exonic | KRAS | . | synonymous SNV | KRAS:NM_004985:exon3:c.G178G:p.G60G,KRAS:NM_033360:exon3:c.G178G:p.G60G | 12p12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1057 | 12 | 25227351 | C | T | Pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25227351 | 25227351 | C | T | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon3:c.C173A:p.T58K,KRAS:NM_033360:exon3:c.C173A:p.T58K | 12p12.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | N | 1 | D | 4.625 | H | -2.31 | D | -5.62 | D | 0.826 | 6.166 | 28.5 | 0.993 | 0.989 | D | 1.060 | D | 0.890 | D | 0.722 | 0 | 4.87 | 0.917 | 0.087 | 1.000 | 0.999 | 15.495 | Deleterious |
| 1058 | 12 | 25245284 | C | T | Pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25245284 | 25245284 | C | T | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon2:c.C101A:p.P34Q,KRAS:NM_033360:exon2:c.C101A:p.P34Q | 12p12.1 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.24 | M | -0.77 | T | -6.76 | D | 0.954 | 6.247 | 28.9 | 0.993 | 0.990 | D | 0.748 | D | 0.784 | D | 0.732 | 0 | 5.68 | 0.917 | 1.029 | 0.999 | 1.000 | 18.372 | Deleterious |
| 1059 | 12 | 25245284 | C | G | Pathogenic/Likely pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25245284 | 25245284 | C | G | exonic | KRAS | . | synonymous SNV | KRAS:NM_004985:exon2:c.C101C:p.P34P,KRAS:NM_033360:exon2:c.C101C:p.P34P | 12p12.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1060 | 12 | 25245320 | A | G | Pathogenic/Likely pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25245320 | 25245320 | A | G | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon2:c.A65C:p.Q22P,KRAS:NM_033360:exon2:c.A65C:p.Q22P | 12p12.1 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 4.045 | H | -0.51 | T | -4.99 | D | 0.98 | 5.870 | 27.4 | 0.996 | 0.981 | D | 0.852 | D | 0.787 | D | 0.732 | 0 | 5.68 | 0.991 | 1.042 | 1.000 | 1.000 | 14.768 | Deleterious |
| 1061 | 12 | 25245345 | G | A | Pathogenic | KRAS | . | . | . | . | . | . | . | . | . | . | 12 | 25245345 | 25245345 | G | A | exonic | KRAS | . | nonsynonymous SNV | KRAS:NM_004985:exon2:c.G40T:p.V14L,KRAS:NM_033360:exon2:c.G40T:p.V14L | 12p12.1 | . | . | 0.002 | D | 0.999 | D | 0.965 | D | 0.000 | D | 1 | D | 4.33 | H | -1.62 | D | -2.52 | D | 0.917 | 7.124 | 34 | 0.998 | 0.984 | D | 0.966 | D | 0.840 | D | 0.732 | 0 | 5.68 | 0.871 | 0.919 | 1.000 | 1.000 | 18.372 | Deleterious |
| 1062 | 12 | 32796108 | G | A | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32796108 | 32796108 | G | A | splicing | PKP2 | NM_004572:exon12:c.2489+1C>T,NM_001005242:exon11:c.2357+1C>T | . | . | 12p11.21 | . | rs111517471 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.486 | 24.3 | 0.989 | 0.925 | D | . | . | . | . | 0.156 | 0 | 5.06 | 0.871 | 0.931 | 0.087 | 0.158 | 17.583 | Deleterious (FATHMM) |
| 1063 | 12 | 32802557 | G | C | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32802557 | 32802557 | G | C | splicing | PKP2 | NM_004572:exon11:c.2146-1C>G,NM_001005242:exon10:c.2014-1C>G | . | . | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1064 | 12 | 32822526 | C | T | Pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32822526 | 32822526 | C | T | exonic | PKP2 | . | nonsynonymous SNV | PKP2:NM_001005242:exon8:c.C1780A:p.Q594K,PKP2:NM_004572:exon9:c.C1912A:p.Q638K | 12p11.21 | . | . | 0.665 | T | 0.544 | P | 0.121 | B | 0.230 | N | 0.987 | D | 1.1 | L | -0.88 | T | -1.1 | N | 0.124 | 1.878 | 15.45 | 0.944 | 0.873 | D | -0.706 | T | 0.226 | T | 0.732 | 0 | 5.05 | 0.917 | 1.048 | 1.000 | 1.000 | 10.570 | Tolerated |
| 1065 | 12 | 32841027 | G | A | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32841027 | 32841027 | G | A | splicing | PKP2 | NM_004572:exon7:c.1688+1C>T,NM_001005242:exon6:c.1556+1C>T | . | . | 12p11.21 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.845 | 24.8 | 0.992 | 0.978 | D | . | . | . | . | 0.078 | 0 | 4.37 | 0.871 | 0.935 | 0.974 | 0.979 | 13.706 | Deleterious (FATHMM) |
| 1066 | 12 | 32841103 | G | A | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32841103 | 32841103 | G | A | exonic | PKP2 | . | nonsynonymous SNV | PKP2:NM_001005242:exon6:c.G1481T:p.W494L,PKP2:NM_004572:exon7:c.G1613T:p.W538L | 12p11.21 | . | . | 0.114 | T | 0.89 | P | 0.493 | P | 0.001 | D | 0.992 | D | 1.765 | L | -1.03 | T | -7.77 | D | 0.695 | 5.362 | 25.9 | 0.975 | 0.855 | D | -0.103 | T | 0.436 | T | 0.706 | 0 | 5.15 | 0.871 | 0.935 | 0.998 | 0.974 | 18.647 | Tolerated |
| 1067 | 12 | 32850765 | G | C | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32850765 | 32850765 | G | C | splicing | PKP2 | NM_004572:exon5:c.1378+1C>G,NM_001005242:exon5:c.1378+1C>G | . | . | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1068 | 12 | 32850907 | C | T | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32850907 | 32850907 | C | T | exonic | PKP2 | . | synonymous SNV | PKP2:NM_001005242:exon5:c.C1237A:p.R413R,PKP2:NM_004572:exon5:c.C1237A:p.R413R | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1069 | 12 | 32868925 | T | A | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32868925 | 32868925 | T | A | splicing | PKP2 | NM_004572:exon4:c.1170+2A>T,NM_001005242:exon4:c.1170+2A>T | . | . | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1070 | 12 | 32868926 | G | A | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32868926 | 32868926 | G | A | splicing | PKP2 | NM_004572:exon4:c.1170+1C>T,NM_001005242:exon4:c.1170+1C>T | . | . | 12p11.21 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.431 | 26.1 | 0.994 | 0.950 | D | . | . | . | . | 0.164 | 0 | 4.92 | 0.871 | 0.837 | 0.984 | 0.992 | 15.936 | Deleterious (FATHMM) |
| 1071 | 12 | 32868935 | C | T | Pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32868935 | 32868935 | C | T | exonic | PKP2 | . | synonymous SNV | PKP2:NM_001005242:exon4:c.C1162A:p.R388R,PKP2:NM_004572:exon4:c.C1162A:p.R388R | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1072 | 12 | 32868965 | C | T | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32868965 | 32868965 | C | T | exonic | PKP2 | . | nonsynonymous SNV | PKP2:NM_001005242:exon4:c.C1132A:p.Q378K,PKP2:NM_004572:exon4:c.C1132A:p.Q378K | 12p11.21 | . | . | 0.003 | D | 0.009 | B | 0.008 | B | 0.000 | N | 1.000 | D | 1.955 | M | 0.84 | T | -3.53 | D | 0.469 | 3.137 | 22.6 | 0.985 | 0.965 | D | -0.885 | T | 0.151 | T | 0.732 | 0 | 5.05 | 0.917 | 0.937 | 0.999 | 0.997 | 16.236 | Tolerated |
| 1073 | 12 | 32878108 | A | T | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32878108 | 32878108 | A | T | exonic | PKP2 | . | synonymous SNV | PKP2:NM_001005242:exon3:c.A772A:p.K258K,PKP2:NM_004572:exon3:c.A772A:p.K258K | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1074 | 12 | 32878512 | G | A | Pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32878512 | 32878512 | G | A | exonic | PKP2 | . | nonsynonymous SNV | PKP2:NM_001005242:exon3:c.G368T:p.W123L,PKP2:NM_004572:exon3:c.G368T:p.W123L | 12p11.21 | . | . | 0.381 | T | 0.022 | B | 0.018 | B | 0.846 | N | 0.613 | N | 0.97 | L | -1.27 | T | -2.03 | N | 0.361 | 2.216 | 17.61 | 0.953 | 0.872 | D | -0.768 | T | 0.343 | T | 0.651 | 0 | 3.88 | -0.105 | 0.848 | 0.375 | 0.999 | 13.911 | Tolerated |
| 1075 | 12 | 32878545 | A | T | Pathogenic/Likely pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32878545 | 32878545 | A | T | splicing | PKP2 | NM_004572:exon3:c.337-2T>A,NM_001005242:exon3:c.337-2T>A | . | . | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1076 | 12 | 32879021 | C | T | Pathogenic | PKP2 | . | . | . | . | . | . | . | . | . | . | 12 | 32879021 | 32879021 | C | T | exonic | PKP2 | . | synonymous SNV | PKP2:NM_001005242:exon2:c.C235A:p.R79R,PKP2:NM_004572:exon2:c.C235A:p.R79R | 12p11.21 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1077 | 12 | 40340400 | G | A | Pathogenic | LRRK2 | . | . | . | . | . | . | . | . | . | . | 12 | 40340400 | 40340400 | G | A | exonic | LRRK2 | . | nonsynonymous SNV | LRRK2:NM_198578:exon41:c.G6055A:p.G2019S | 12q12 | 0.0004 | rs34637584 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.765 | H | -6.08 | D | -5.14 | D | 0.97 | 7.654 | 35 | 0.998 | 0.989 | D | 1.002 | D | 0.990 | D | 0.554 | 0 | 5.69 | 0.917 | 1.048 | 0.993 | 0.859 | 19.822 | Deleterious |
| 1078 | 12 | 47999953 | C | A | Pathogenic | COL2A1 | . | . | . | . | . | . | . | . | . | . | 12 | 47999953 | 47999953 | C | A | exonic | COL2A1 | . | synonymous SNV | COL2A1:NM_001844:exon2:c.C258T:p.C86C | 12q13.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1079 | 12 | 49026905 | C | T | Pathogenic | KMT2D | . | . | . | . | . | . | . | . | . | . | 12 | 49026905 | 49026905 | C | T | exonic | KMT2D | . | synonymous SNV | KMT2D:NM_003482:exon48:c.C15061A:p.R5021R | 12q13.12 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1080 | 12 | 49027256 | C | T | Pathogenic, other | KMT2D | . | . | . | . | . | . | . | . | . | . | 12 | 49027256 | 49027256 | C | T | exonic | KMT2D | . | synonymous SNV | KMT2D:NM_003482:exon48:c.C14710A:p.R4904R | 12q13.12 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1081 | 12 | 49030958 | C | T | Pathogenic | KMT2D | . | . | . | . | . | . | . | . | . | . | 12 | 49030958 | 49030958 | C | T | exonic | KMT2D | . | synonymous SNV | KMT2D:NM_003482:exon40:c.C13606A:p.R4536R | 12q13.12 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1082 | 12 | 49050467 | C | T | Pathogenic | KMT2D | . | . | . | . | . | . | . | . | . | . | 12 | 49050467 | 49050467 | C | T | exonic | KMT2D | . | nonsynonymous SNV | KMT2D:NM_003482:exon11:c.C3121A:p.Q1041K | 12q13.12 | . | . | 0.005 | D | 0.034 | B | 0.017 | B | 0.099 | N | 0.995 | N | 0 | N | -1.25 | T | -0.5 | N | 0.173 | 0.199 | 4.667 | 0.754 | 0.977 | D | -0.757 | T | 0.226 | T | 0.722 | 0 | 4.18 | 0.630 | 0.813 | 0.367 | 0.145 | 12.438 | Tolerated |
| 1083 | 12 | 49185101 | G | A | Pathogenic | TUBA1A | . | . | . | . | . | . | . | . | . | . | 12 | 49185101 | 49185101 | G | A | exonic | TUBA1A | . | nonsynonymous SNV | TUBA1A:NM_001270399:exon4:c.G1265T:p.R422L,TUBA1A:NM_001270400:exon4:c.G1160T:p.R387L,TUBA1A:NM_006009:exon4:c.G1265T:p.R422L | 12q13.12 | . | . | 0.0 | D | 0.049 | B | 0.154 | B | 0.000 | D | 1 | D | 3.145 | M | -1.87 | D | -4.4 | D | 0.873 | 6.874 | 33 | 0.965 | 0.977 | D | 0.271 | D | 0.660 | D | 0.722 | 0 | 4.62 | 0.871 | 0.790 | 0.999 | 1.000 | 13.371 | Deleterious |
| 1084 | 12 | 49186832 | G | A | Pathogenic/Likely pathogenic | TUBA1A | . | . | . | . | . | . | . | . | . | . | 12 | 49186832 | 49186832 | G | A | exonic | TUBA1A | . | nonsynonymous SNV | TUBA1A:NM_001270399:exon2:c.G5T:p.R2L,TUBA1A:NM_006009:exon2:c.G5T:p.R2L | 12q13.12 | . | . | 0.0 | D | 0.994 | D | 0.967 | D | 0.000 | D | 1 | D | 3.92 | H | -0.49 | T | -3.44 | D | 0.951 | 7.694 | 35 | 0.997 | 0.993 | D | 0.629 | D | 0.676 | D | 0.706 | 0 | 5.29 | 0.871 | 0.852 | 0.999 | 0.997 | 18.093 | Deleterious |
| 1085 | 12 | 51765675 | G | A | Pathogenic/Likely pathogenic | SCN8A | . | . | . | . | . | . | . | . | . | . | 12 | 51765675 | 51765675 | G | A | exonic | SCN8A | . | nonsynonymous SNV | SCN8A:NM_001177984:exon16:c.G2549A:p.R850Q,SCN8A:NM_014191:exon16:c.G2549A:p.R850Q | 12q13.13 | . | rs587780586 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.27 | H | -6.27 | D | -3.73 | D | 0.973 | 7.258 | 34 | 0.999 | 0.997 | D | 0.945 | D | 0.992 | D | 0.707 | 0 | 4.45 | 0.917 | 1.048 | 1.000 | 1.000 | 18.411 | Deleterious |
| 1086 | 12 | 51807100 | C | T | Pathogenic/Likely pathogenic | SCN8A | . | . | . | . | . | . | . | . | . | . | 12 | 51807100 | 51807100 | C | T | exonic | SCN8A | . | nonsynonymous SNV | SCN8A:NM_001177984:exon26:c.C5491T:p.R1831W,SCN8A:NM_014191:exon27:c.C5614T:p.R1872W | 12q13.13 | . | rs796053228 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.43 | M | -4.0 | D | -6.84 | D | 0.905 | 6.365 | 29.4 | 0.998 | 0.837 | D | 1.014 | D | 0.921 | D | 0.707 | 0 | 1.78 | 0.871 | 0.852 | 1.000 | 1.000 | 13.219 | Deleterious |
| 1087 | 12 | 76348214 | C | T | Pathogenic | BBS10 | . | . | . | . | . | . | . | . | . | . | 12 | 76348214 | 76348214 | C | T | exonic | BBS10 | . | synonymous SNV | BBS10:NM_024685:exon1:c.C145A:p.R49R | 12q21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1088 | 12 | 88077263 | G | T | Pathogenic | CEP290 | . | . | . | . | . | . | . | . | . | . | 12 | 88077263 | 88077263 | G | T | exonic | CEP290 | . | nonsynonymous SNV | CEP290:NM_025114:exon41:c.G5668A:p.G1890R | 12q21.32 | . | . | 0.999 | T | 0.0 | B | 0.0 | B | 0.000 | N | 0.998 | N | -2.005 | N | 0.59 | T | 2.0 | N | 0.179 | 1.076 | 11.08 | 0.089 | 0.052 | N | -0.963 | T | 0.043 | T | 0.651 | 0 | 2.73 | 0.021 | 0.082 | 0.845 | 0.991 | 9.071 | Tolerated |
| 1089 | 12 | 88101183 | A | G | Pathogenic | CEP290 | . | . | . | . | . | . | . | . | . | . | 12 | 88101183 | 88101183 | A | G | intronic | CEP290 | . | . | . | 12q21.32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1090 | 12 | 101770182 | C | T | Pathogenic | GNPTAB | . | . | . | . | . | . | . | . | . | . | 12 | 101770182 | 101770182 | C | T | exonic | GNPTAB | . | synonymous SNV | GNPTAB:NM_024312:exon10:c.C1123A:p.R375R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1091 | 12 | 102840399 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102840399 | 102840399 | G | A | splicing | PAH | NM_000277:exon12:c.1315+1C>T | . | . | 12q23.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.266 | 25.7 | 0.995 | 0.984 | D | . | . | . | . | 0.061 | 0 | 5.33 | 0.871 | 0.935 | 0.987 | 0.996 | 18.147 | Deleterious (FATHMM) |
| 1092 | 12 | 102840472 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102840472 | 102840472 | G | A | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon12:c.G1243T:p.D415Y | 12q23.2 | . | . | 0.0 | D | 0.999 | D | 0.989 | D | 0.000 | D | 1.000 | D | 2.575 | M | -6.29 | D | -3.54 | D | 0.939 | 6.757 | 32 | 0.994 | 0.878 | D | 1.095 | D | 0.981 | D | 0.638 | 0 | 4.74 | 0.871 | 0.935 | 0.999 | 0.960 | 7.614 | Deleterious |
| 1093 | 12 | 102840474 | A | G | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102840474 | 102840474 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon12:c.A1241C:p.Y414S | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.955 | H | -6.53 | D | -8.1 | D | 0.981 | 6.217 | 28.8 | 0.993 | 0.966 | D | 0.956 | D | 0.992 | D | 0.638 | 0 | 5.63 | 0.991 | 1.061 | 0.999 | 0.914 | 14.816 | Deleterious |
| 1094 | 12 | 102840493 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102840493 | 102840493 | C | T | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon12:c.C1222A:p.R408R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1095 | 12 | 102840507 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102840507 | 102840507 | C | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon12:c.C1208A:p.A403D | 12q23.2 | . | . | 0.001 | D | 0.995 | D | 0.99 | D | 0.000 | D | 1 | D | 3.835 | H | -6.35 | D | -4.59 | D | 0.865 | 6.823 | 32 | 0.998 | 0.958 | D | 0.985 | D | 0.991 | D | 0.638 | 0 | 5.63 | 0.917 | 1.048 | 0.985 | 1.000 | 18.445 | Deleterious |
| 1096 | 12 | 102843645 | G | C | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843645 | 102843645 | G | C | splicing | PAH | NM_000277:exon11:c.1199+1C>G | . | . | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 1097 | 12 | 102843676 | A | G | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843676 | 102843676 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon11:c.A1169C:p.E390A | 12q23.2 | . | . | 0.002 | D | 0.951 | P | 0.843 | P | 0.000 | D | 1 | D | 3.465 | M | -6.43 | D | -4.77 | D | 0.846 | 5.299 | 25.8 | 0.994 | 0.988 | D | 0.985 | D | 0.989 | D | 0.638 | 0 | 5.34 | 0.991 | 1.011 | 0.873 | 0.835 | 15.322 | Deleterious |
| 1098 | 12 | 102843683 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843683 | 102843683 | G | A | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon11:c.G1162T:p.V388L | 12q23.2 | . | rs62516101 | 0.101 | T | 0.078 | B | 0.133 | B | 0.000 | D | 1 | D | 1.775 | L | -6.57 | D | -1.47 | N | 0.966 | 3.254 | 22.8 | 0.983 | 0.976 | D | 1.050 | D | 0.965 | D | 0.638 | 0 | 5.34 | 0.871 | 0.892 | 0.650 | 0.484 | 12.403 | Deleterious |
| 1099 | 12 | 102843688 | A | G | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843688 | 102843688 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon11:c.A1157C:p.Y386S | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.4 | H | -6.89 | D | -8.51 | D | 0.985 | 5.593 | 26.5 | 0.990 | 0.988 | D | 0.912 | D | 0.995 | D | 0.638 | 0 | 5.34 | 0.991 | 1.011 | 0.654 | 0.743 | 15.322 | Deleterious |
| 1100 | 12 | 102843706 | C | T | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843706 | 102843706 | C | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon11:c.C1139A:p.T380K | 12q23.2 | . | . | 0.015 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | D | 3.975 | H | -6.18 | D | -5.78 | D | 0.852 | 5.805 | 27.1 | 0.989 | 0.977 | D | 0.972 | D | 0.992 | D | 0.638 | 0 | 5.34 | 0.917 | 0.998 | 0.993 | 0.661 | 19.048 | Deleterious |
| 1101 | 12 | 102843777 | C | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843777 | 102843777 | C | A | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon11:c.C1068T:p.Y356Y | 12q23.2 | . | rs62516095 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1102 | 12 | 102843782 | C | T | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843782 | 102843782 | C | T | intronic | PAH | . | . | . | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1103 | 12 | 102843790 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102843790 | 102843790 | G | A | intronic | PAH | . | . | . | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1104 | 12 | 102844356 | T | C | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102844356 | 102844356 | T | C | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon10:c.T1045G:p.S349A | 12q23.2 | . | rs62508646 | 0.002 | D | 0.998 | D | 0.993 | D | 0.000 | D | 1 | D | 4.485 | H | -6.82 | D | -2.86 | D | 0.939 | 6.071 | 28.1 | 0.998 | 0.998 | D | 0.910 | D | 0.995 | D | 0.638 | 0 | 5.81 | 1.062 | 1.199 | 0.997 | 0.986 | 16.162 | Deleterious |
| 1105 | 12 | 102844368 | G | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102844368 | 102844368 | G | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon10:c.G1033A:p.A345T | 12q23.2 | . | rs62516062 | 0.002 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.345 | H | -7.01 | D | -3.79 | D | 0.979 | 7.410 | 34 | 0.999 | 0.990 | D | 0.918 | D | 0.996 | D | 0.638 | 0 | 5.81 | 0.871 | 0.935 | 1.000 | 1.000 | 20.078 | Deleterious |
| 1106 | 12 | 102846932 | T | C | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102846932 | 102846932 | T | C | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon9:c.T932G:p.L311R | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.92 | M | -6.84 | D | -5.84 | D | 0.99 | 6.075 | 28.1 | 0.997 | 0.997 | D | 0.974 | D | 0.991 | D | 0.638 | 0 | 5.38 | 1.062 | 1.082 | 0.987 | 0.946 | 15.398 | Deleterious |
| 1107 | 12 | 102846948 | A | G | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102846948 | 102846948 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon9:c.A916C:p.I306L | 12q23.2 | . | . | 0.105 | T | 0.991 | D | 0.949 | D | 0.000 | D | 1 | D | 2.65 | M | -6.46 | D | -1.94 | N | 0.804 | 4.639 | 24.5 | 0.990 | 0.995 | D | 1.039 | D | 0.987 | D | 0.638 | 0 | 5.38 | 0.991 | 0.960 | 1.000 | 0.974 | 15.398 | Deleterious |
| 1108 | 12 | 102851701 | G | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102851701 | 102851701 | G | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon8:c.G898A:p.A300T | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | N | 1 | D | 4.46 | H | -7.09 | D | -3.89 | D | 0.982 | 7.554 | 34 | 0.999 | 0.972 | D | 0.910 | D | 0.996 | D | 0.638 | 0 | 5.51 | 0.871 | 0.935 | 1.000 | 1.000 | 19.779 | Deleterious |
| 1109 | 12 | 102851703 | T | G | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102851703 | 102851703 | T | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon8:c.T896C:p.F299S | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.355 | H | -7.0 | D | -7.78 | D | 0.982 | 6.969 | 33 | 0.999 | 0.980 | D | 0.904 | D | 0.996 | D | 0.638 | 0 | 5.51 | 1.062 | 1.199 | 0.999 | 1.000 | 15.919 | Deleterious |
| 1110 | 12 | 102852815 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852815 | 102852815 | C | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon7:c.C842A:p.P281H | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.48 | H | -7.91 | D | -8.63 | D | 0.97 | 6.324 | 29.2 | 0.997 | 0.993 | D | 0.910 | D | 0.998 | D | 0.638 | 0 | 5.73 | 0.917 | 1.048 | 0.997 | 0.980 | 19.896 | Deleterious |
| 1111 | 12 | 102852819 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852819 | 102852819 | G | A | exonic | PAH | . | stopgain | PAH:NM_000277:exon7:c.G838T:p.E280X | 12q23.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.343 | 41 | 0.997 | 0.988 | D | . | . | . | . | 0.638 | 0 | 5.73 | 0.871 | 0.935 | 0.996 | 0.779 | 19.896 | Deleterious (FATHMM) |
| 1112 | 12 | 102852828 | T | G | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852828 | 102852828 | T | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon7:c.T829C:p.Y277H | 12q23.2 | . | . | 0.548 | T | 1.0 | D | 1.0 | D | 0.000 | N | 1 | D | 2.045 | M | -6.82 | D | -4.79 | D | 0.75 | 3.609 | 23.2 | 0.996 | 0.979 | D | 1.165 | D | 0.984 | D | 0.638 | 0 | 4.58 | 1.062 | 1.199 | 0.998 | 0.944 | 11.516 | Deleterious |
| 1113 | 12 | 102852875 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852875 | 102852875 | G | A | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon7:c.G782T:p.R261L | 12q23.2 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 4.26 | H | -6.72 | D | -6.61 | D | 0.991 | 8.087 | 35 | 0.999 | 0.988 | D | 0.929 | D | 0.995 | D | 0.638 | 0 | 5.72 | 0.871 | 0.935 | 0.997 | 1.000 | 19.876 | Deleterious |
| 1114 | 12 | 102852903 | C | T | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852903 | 102852903 | C | T | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon7:c.C754A:p.R252R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1115 | 12 | 102852912 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852912 | 102852912 | C | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon7:c.C745A:p.L249I | 12q23.2 | . | . | 0.001 | D | 0.994 | D | 0.975 | D | 0.000 | D | 1 | D | 1.335 | L | -6.07 | D | -1.92 | N | 0.727 | 6.247 | 28.9 | 0.995 | 0.989 | D | 1.102 | D | 0.971 | D | 0.638 | 0 | 5.03 | 0.917 | 1.048 | 0.995 | 0.998 | 14.970 | Deleterious |
| 1116 | 12 | 102852930 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852930 | 102852930 | C | T | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon7:c.C727A:p.R243R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1117 | 12 | 102852936 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102852936 | 102852936 | C | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon7:c.C721A:p.R241S | 12q23.2 | . | . | 0.433 | T | 0.835 | P | 0.677 | P | 0.000 | D | 1 | D | 0.99 | L | -6.06 | D | -0.13 | N | 0.745 | 5.210 | 25.6 | 0.996 | 0.973 | D | 1.091 | D | 0.959 | D | 0.638 | 0 | 5.92 | 0.917 | 1.048 | 1.000 | 1.000 | 20.317 | Deleterious |
| 1118 | 12 | 102855204 | T | C | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102855204 | 102855204 | T | C | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon6:c.T638G:p.L213R | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.275 | H | -6.84 | D | -5.73 | D | 0.946 | 6.352 | 29.4 | 0.998 | 0.993 | D | 0.917 | D | 0.994 | D | 0.638 | 0 | 5.63 | 1.062 | 1.199 | 1.000 | 1.000 | 15.835 | Deleterious |
| 1119 | 12 | 102855231 | A | G | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102855231 | 102855231 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon6:c.A611C:p.Y204S | 12q23.2 | . | . | 0.143 | T | 0.05 | B | 0.158 | B | 0.000 | N | 1.000 | D | -0.24 | N | -6.01 | D | 0.72 | N | 0.409 | 2.541 | 19.73 | 0.941 | 0.952 | D | 0.772 | D | 0.903 | D | 0.638 | 0 | 4.7 | 0.991 | 1.061 | 0.997 | 0.997 | 13.039 | Deleterious |
| 1120 | 12 | 102855309 | A | G | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102855309 | 102855309 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon6:c.A533C:p.E178A | 12q23.2 | . | . | 0.063 | T | 0.512 | P | 0.634 | P | 0.001 | D | 0.998 | D | 1.81 | L | -6.37 | D | -3.65 | D | 0.515 | 4.046 | 23.7 | 0.996 | 0.927 | D | 1.041 | D | 0.977 | D | 0.638 | 0 | 5.73 | 0.991 | 1.061 | 0.998 | 0.998 | 11.507 | Deleterious |
| 1121 | 12 | 102855315 | G | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102855315 | 102855315 | G | T | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon6:c.G527A:p.R176Q | 12q23.2 | . | rs74486803 | 0.048 | D | 0.143 | B | 0.051 | B | 0.015 | N | 1.000 | N | 1.88 | L | -6.11 | D | -2.22 | N | 0.668 | 4.162 | 23.8 | 0.993 | 0.135 | N | 0.936 | D | 0.943 | D | 0.554 | 0 | 0.698 | -0.032 | -0.347 | 0.981 | 0.949 | 9.429 | Deleterious |
| 1122 | 12 | 102855316 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102855316 | 102855316 | C | T | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon6:c.C526A:p.R176R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1123 | 12 | 102866597 | C | G | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102866597 | 102866597 | C | G | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon5:c.C508C:p.H170H | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1124 | 12 | 102866632 | G | A | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102866632 | 102866632 | G | A | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon5:c.G473T:p.R158L | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.12 | H | -6.72 | D | -6.78 | D | 0.921 | 7.541 | 34 | 0.999 | 0.964 | D | 0.923 | D | 0.994 | D | 0.638 | 0 | 5.17 | 0.871 | 0.935 | 0.993 | 0.992 | 14.650 | Deleterious |
| 1125 | 12 | 102877457 | G | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102877457 | 102877457 | G | T | intronic | PAH | . | . | . | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1126 | 12 | 102877461 | G | A | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102877461 | 102877461 | G | A | splicing | PAH | NM_000277:exon4:c.441+1C>T | . | . | 12q23.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.166 | 25.5 | 0.994 | 0.948 | D | . | . | . | . | 0.054 | 0 | 5.86 | 0.871 | 0.935 | 0.918 | 0.850 | 20.177 | Deleterious (FATHMM) |
| 1127 | 12 | 102894756 | C | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102894756 | 102894756 | C | T | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon3:c.C331A:p.R111R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1128 | 12 | 102894883 | A | T | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102894883 | 102894883 | A | T | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon3:c.A204A:p.R68R | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1129 | 12 | 102894893 | T | C | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102894893 | 102894893 | T | C | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon3:c.T194G:p.I65S | 12q23.2 | . | rs75193786 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.395 | H | -5.68 | D | -5.41 | D | 0.996 | 6.593 | 31 | 0.995 | 0.988 | D | 0.982 | D | 0.989 | D | 0.615 | 0 | 6.17 | 1.062 | 1.199 | 1.000 | 1.000 | 16.822 | Deleterious |
| 1130 | 12 | 102912794 | T | G | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102912794 | 102912794 | T | G | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon2:c.T165C:p.F55F | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1131 | 12 | 102912816 | T | C | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102912816 | 102912816 | T | C | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon2:c.T143G:p.L48W | 12q23.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.49 | H | -6.67 | D | -5.48 | D | 0.934 | 5.589 | 26.5 | 0.964 | 0.934 | D | 0.926 | D | 0.995 | D | 0.638 | 0 | 5.46 | 1.062 | 1.199 | 0.992 | 0.997 | 13.057 | Deleterious |
| 1132 | 12 | 102912842 | C | G | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102912842 | 102912842 | C | G | exonic | PAH | . | synonymous SNV | PAH:NM_000277:exon2:c.C117C:p.F39F | 12q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1133 | 12 | 102917066 | G | T | Pathogenic | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102917066 | 102917066 | G | T | intronic | PAH | . | . | . | 12q23.2 | . | rs62514895 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 1134 | 12 | 102917130 | A | G | Pathogenic/Likely pathogenic, not provided | PAH | . | . | . | . | . | . | . | . | . | . | 12 | 102917130 | 102917130 | A | G | exonic | PAH | . | nonsynonymous SNV | PAH:NM_000277:exon1:c.A1C:p.M1L | 12q23.2 | . | . | 0.597 | T | 0.696 | P | 0.746 | P | 0.765 | N | 1 | D | . | . | -4.39 | D | -0.47 | N | 0.982 | 0.267 | 5.372 | 0.890 | 0.874 | D | 0.903 | D | 0.959 | D | 0.405 | 1 | 5.2 | 0.991 | 1.061 | 0.339 | 0.287 | 11.636 | Deleterious |
| 1135 | 12 | 109557081 | C | T | Pathogenic | MMAB | . | . | . | . | . | . | . | . | . | . | 12 | 109557081 | 109557081 | C | T | exonic | MMAB | . | nonsynonymous SNV | MMAB:NM_052845:exon9:c.C700A:p.Q234K | 12q24.11 | . | . | 0.357 | T | 0.0 | B | 0.0 | B | 0.052 | N | 0.909 | N | 0.155 | N | -2.59 | D | -0.08 | N | 0.22 | 1.626 | 13.99 | 0.887 | 0.689 | D | -0.754 | T | 0.382 | T | 0.706 | 0 | 4.52 | -0.044 | 1.048 | 0.927 | 0.920 | 11.340 | Tolerated |
| 1136 | 12 | 109561068 | C | T | Pathogenic | MMAB | . | . | . | . | . | . | . | . | . | . | 12 | 109561068 | 109561068 | C | T | exonic | MMAB | . | synonymous SNV | MMAB:NM_052845:exon7:c.C556A:p.R186R | 12q24.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1137 | 12 | 109591275 | T | C | Pathogenic | MVK | . | . | . | . | . | . | . | . | . | . | 12 | 109591275 | 109591275 | T | C | exonic | MVK | . | nonsynonymous SNV | MVK:NM_001301182:exon8:c.T647C:p.I216T,MVK:NM_000431:exon9:c.T803C:p.I268T,MVK:NM_001114185:exon9:c.T803C:p.I268T | 12q24.11 | 0.0003 | rs104895304 | 0.003 | D | 0.983 | D | 0.945 | D | 0.000 | D | 1 | A | 2.865 | M | -3.34 | D | -3.86 | D | 0.895 | 5.126 | 25.4 | 0.997 | 0.893 | D | 1.060 | D | 0.879 | D | 0.732 | 0 | 4.6 | 0.991 | 1.061 | 0.070 | 0.239 | 10.291 | Deleterious |
| 1138 | 12 | 109596515 | G | A | Pathogenic | MVK | . | . | . | . | . | . | . | . | . | . | 12 | 109596515 | 109596515 | G | A | exonic | MVK | . | nonsynonymous SNV | MVK:NM_001301182:exon10:c.G973A:p.V325I,MVK:NM_000431:exon11:c.G1129A:p.V377I,MVK:NM_001114185:exon11:c.G1129A:p.V377I | 12q24.11 | 0.0017 | rs28934897 | 0.149 | T | 0.45 | B | 0.15 | B | 0.000 | N | 1.000 | A | 0.205 | N | -3.42 | D | -0.53 | N | 0.758 | 2.617 | 20.3 | 0.981 | 0.932 | D | 0.071 | D | 0.580 | D | 0.635 | 0 | 3.17 | -0.011 | 0.135 | 0.037 | 0.006 | 7.539 | Deleterious |
| 1139 | 12 | 109798823 | C | T | Pathogenic | TRPV4 | . | . | . | . | . | . | . | . | . | . | 12 | 109798823 | 109798823 | C | T | exonic | TRPV4 | . | synonymous SNV | TRPV4:NM_001177428:exon4:c.C802A:p.R268R,TRPV4:NM_001177433:exon4:c.C802A:p.R268R,TRPV4:NM_147204:exon5:c.C943A:p.R315R,TRPV4:NM_001177431:exon6:c.C841A:p.R281R,TRPV4:NM_021625:exon6:c.C943A:p.R315R | 12q24.11 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 1140 | 12 | 109800665 | G | A | Pathogenic | TRPV4 | . | . | . | . | . | . | . | . | . | . | 12 | 109800665 | 109800665 | G | A | exonic | TRPV4 | . | nonsynonymous SNV | TRPV4:NM_147204:exon4:c.G806T:p.R269L,TRPV4:NM_001177431:exon5:c.G704T:p.R235L,TRPV4:NM_021625:exon5:c.G806T:p.R269L | 12q24.11 | . | . | 0.259 | T | 0.999 | D | 0.854 | P | 0.000 | D | 1 | D | 0.645 | N | -2.48 | D | -2.38 | N | 0.903 | 6.316 | 29.2 | 0.998 | 0.881 | D | 0.046 | D | 0.626 | D | 0.615 | 0 | 4.92 | 0.871 | 0.852 | 0.984 | 0.955 | 17.087 | Deleterious |
| 1141 | 12 | 109803009 | C | T | Pathogenic | TRPV4 | . | . | . | . | . | . | . | . | . | . | 12 | 109803009 | 109803009 | C | T | exonic | TRPV4 | . | nonsynonymous SNV | TRPV4:NM_001177428:exon3:c.C694A:p.R232S,TRPV4:NM_001177433:exon3:c.C694A:p.R232S,TRPV4:NM_147204:exon3:c.C694A:p.R232S,TRPV4:NM_001177431:exon4:c.C592A:p.R198S,TRPV4:NM_021625:exon4:c.C694A:p.R232S | 12q24.11 | . | . | 0.634 | T | 0.982 | D | 0.643 | P | 0.000 | D | 1.000 | D | 0.345 | N | -0.49 | T | 0.17 | N | 0.941 | 2.546 | 19.76 | 0.980 | 0.608 | D | -0.349 | T | 0.494 | T | 0.707 | 0 | 2.56 | -0.020 | 0.017 | 0.982 | 0.577 | 11.25 | Tolerated |
| 1142 | 12 | 110914287 | G | A | Pathogenic/Likely pathogenic, not provided | MYL2 | . | . | . | . | . | . | . | . | . | . | 12 | 110914287 | 110914287 | G | A | exonic | MYL2 | . | nonsynonymous SNV | MYL2:NM_000432:exon4:c.G173T:p.R58L | 12q24.11 | . | . | 0.002 | D | 0.999 | D | 0.996 | D | 0.000 | D | 1 | D | -0.39 | N | -0.84 | T | -4.05 | D | 0.879 | 5.982 | 27.8 | 0.998 | 0.937 | D | -0.301 | T | 0.366 | T | 0.428 | 0 | 4.88 | 0.824 | 0.935 | 0.933 | 0.988 | 16.796 | Tolerated |
| 1143 | 12 | 110919133 | G | A | Pathogenic/Likely pathogenic, not provided | MYL2 | . | . | . | . | . | . | . | . | . | . | 12 | 110919133 | 110919133 | G | A | exonic | MYL2 | . | stopgain | MYL2:NM_000432:exon2:c.G64T:p.E22X | 12q24.11 | . | rs104894368 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.448 | 37 | 0.998 | 0.967 | D | . | . | . | . | 0.428 | 0 | 4.44 | 0.871 | 0.071 | 0.998 | 0.972 | 12.780 | Deleterious (FATHMM) |
| 1144 | 12 | 112419116 | C | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112419116 | 112419116 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon1:c.C5T:p.T2I,PTPN11:NM_080601:exon1:c.C5T:p.T2I | 12q24.13 | . | rs267606990 | 0.044 | D | 0.191 | B | 0.109 | B | . | . | 0.999 | D | 1.075 | L | 2.87 | T | -0.18 | N | 0.806 | 4.094 | 23.7 | 0.993 | 0.581 | D | -0.683 | T | 0.231 | T | 0.442 | 0 | 3.82 | 0.853 | 0.856 | 1.000 | 1.000 | 12.147 | Tolerated |
| 1145 | 12 | 112446385 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112446385 | 112446385 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon2:c.A124G:p.T42A,PTPN11:NM_080601:exon2:c.A124G:p.T42A | 12q24.13 | . | rs397507501 | 0.115 | T | 0.75 | P | 0.475 | P | 0.000 | D | 1 | D | 0.485 | N | -2.54 | D | -3.31 | D | 0.796 | 2.848 | 21.6 | 0.998 | 0.975 | D | 0.038 | D | 0.518 | D | 0.732 | 0 | 4.77 | 1.062 | 1.199 | 0.999 | 0.978 | 12.300 | Deleterious |
| 1146 | 12 | 112450352 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450352 | 112450352 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A172G:p.N58D,PTPN11:NM_080601:exon3:c.A172G:p.N58D | 12q24.13 | . | rs397507505 | 0.018 | D | 0.998 | D | 0.98 | D | 0.000 | D | 1 | D | 1.62 | L | -2.39 | D | -4.31 | D | 0.379 | 5.848 | 27.3 | 0.998 | 0.993 | D | 0.641 | D | 0.763 | D | 0.722 | 0 | 5.63 | 1.062 | 1.193 | 1.000 | 1.000 | 15.855 | Deleterious |
| 1147 | 12 | 112450352 | A | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450352 | 112450352 | A | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A172C:p.N58H,PTPN11:NM_080601:exon3:c.A172C:p.N58H | 12q24.13 | . | rs397507505 | 0.041 | D | 0.998 | D | 0.838 | P | 0.000 | D | 1 | D | 1.82 | L | -2.42 | D | -4.31 | D | 0.528 | 5.095 | 25.3 | 0.997 | 0.994 | D | 0.615 | D | 0.746 | D | 0.722 | 0 | 5.63 | 1.062 | 1.193 | 1.000 | 1.000 | 15.855 | Deleterious |
| 1148 | 12 | 112450354 | C | G | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450354 | 112450354 | C | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.C174G:p.N58K,PTPN11:NM_080601:exon3:c.C174G:p.N58K | 12q24.13 | . | rs397507506 | 0.005 | D | 1.0 | D | 0.992 | D | 0.000 | D | 1.000 | D | 1.41 | L | -2.29 | D | -5.18 | D | 0.328 | 5.971 | 27.7 | 0.998 | 0.963 | D | 0.262 | D | 0.662 | D | 0.722 | 0 | 3.79 | 0.033 | 0.931 | 0.999 | 1.000 | 9.885 | Deleterious |
| 1149 | 12 | 112450354 | C | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450354 | 112450354 | C | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.C174A:p.N58K,PTPN11:NM_080601:exon3:c.C174A:p.N58K | 12q24.13 | . | rs397507506 | 0.005 | D | 1.0 | D | 0.992 | D | 0.000 | D | 1.000 | D | 1.41 | L | -2.29 | D | -5.18 | D | 0.328 | 6.408 | 29.6 | 0.998 | 0.960 | D | 0.262 | D | 0.662 | D | 0.722 | 0 | 3.79 | 0.033 | 0.931 | 0.999 | 1.000 | 9.885 | Deleterious |
| 1150 | 12 | 112450358 | G | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450358 | 112450358 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G178T:p.G60C,PTPN11:NM_080601:exon3:c.G178T:p.G60C | 12q24.13 | . | rs397507507 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.24 | H | -4.15 | D | -7.57 | D | 0.959 | 6.618 | 32 | 0.997 | 0.995 | D | 1.083 | D | 0.968 | D | 0.722 | 0 | 5.63 | 0.917 | 1.044 | 0.999 | 1.000 | 19.698 | Deleterious |
| 1151 | 12 | 112450358 | G | A | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450358 | 112450358 | G | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G178A:p.G60S,PTPN11:NM_080601:exon3:c.G178A:p.G60S | 12q24.13 | . | rs397507507 | 0.003 | D | 0.997 | D | 0.995 | D | 0.000 | D | 1 | D | 1.96 | M | -4.03 | D | -4.88 | D | 0.924 | 6.623 | 32 | 0.999 | 0.994 | D | 1.052 | D | 0.927 | D | 0.722 | 0 | 5.63 | 0.917 | 1.044 | 0.999 | 1.000 | 19.698 | Deleterious |
| 1152 | 12 | 112450359 | G | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450359 | 112450359 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G179C:p.G60A,PTPN11:NM_080601:exon3:c.G179C:p.G60A | 12q24.13 | . | rs397507509 | 0.014 | D | 0.999 | D | 0.989 | D | 0.000 | D | 1 | D | 2.265 | M | -4.06 | D | -4.91 | D | 0.909 | 5.820 | 27.2 | 0.999 | 0.994 | D | 1.050 | D | 0.936 | D | 0.722 | 0 | 5.9 | 0.917 | 1.044 | 0.997 | 0.999 | 20.279 | Deleterious |
| 1153 | 12 | 112450361 | G | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450361 | 112450361 | G | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G181A:p.D61N,PTPN11:NM_080601:exon3:c.G181A:p.D61N | 12q24.13 | . | rs397507510 | 0.002 | D | 0.998 | D | 0.986 | D | 0.000 | D | 1 | D | 1.185 | L | -3.97 | D | -3.91 | D | 0.186 | 6.855 | 33 | 0.999 | 0.993 | D | 0.992 | D | 0.905 | D | 0.722 | 0 | 5.9 | 0.917 | 1.044 | 0.995 | 0.998 | 20.279 | Deleterious |
| 1154 | 12 | 112450362 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450362 | 112450362 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A182G:p.D61G,PTPN11:NM_080601:exon3:c.A182G:p.D61G | 12q24.13 | . | rs121918461 | 0.031 | D | 0.908 | P | 0.79 | P | 0.000 | N | 1 | A | -0.005 | N | -3.78 | D | -5.64 | D | 0.979 | 6.333 | 29.3 | 0.998 | 0.991 | D | 0.866 | D | 0.793 | D | 0.722 | 0 | 5.9 | 1.062 | 1.193 | 0.995 | 0.998 | 16.329 | Deleterious |
| 1155 | 12 | 112450364 | T | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450364 | 112450364 | T | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.T184G:p.Y62D,PTPN11:NM_080601:exon3:c.T184G:p.Y62D | 12q24.13 | . | rs121918460 | 0.011 | D | 0.994 | D | 0.932 | D | 0.000 | D | 1 | A | 2.73 | M | -2.32 | D | -7.24 | D | 0.988 | 6.213 | 28.7 | 0.992 | 0.988 | D | 0.755 | D | 0.797 | D | 0.722 | 0 | 5.9 | 0.991 | 1.057 | 0.997 | 0.998 | 16.329 | Deleterious |
| 1156 | 12 | 112450368 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450368 | 112450368 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A188G:p.Y63C,PTPN11:NM_080601:exon3:c.A188G:p.Y63C | 12q24.13 | . | rs121918459 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | A | 3.55 | H | -2.68 | D | -7.07 | D | 0.968 | 5.985 | 27.8 | 0.998 | 0.990 | D | 1.024 | D | 0.892 | D | 0.722 | 0 | 5.63 | 1.062 | 1.193 | 1.000 | 1.000 | 15.855 | Deleterious |
| 1157 | 12 | 112450385 | G | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450385 | 112450385 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G205C:p.E69Q,PTPN11:NM_080601:exon3:c.G205C:p.E69Q | 12q24.13 | . | rs397507511 | 0.002 | D | 1.0 | D | 0.986 | D | 0.000 | D | 1 | D | 1.55 | L | -2.41 | D | -2.57 | D | 0.846 | 5.384 | 25.9 | 0.997 | 0.992 | D | 0.538 | D | 0.753 | D | 0.722 | 0 | 5.01 | 0.917 | 1.044 | 0.999 | 0.999 | 14.802 | Deleterious |
| 1158 | 12 | 112450389 | A | G | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450389 | 112450389 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A209G:p.K70R,PTPN11:NM_080601:exon3:c.A209G:p.K70R | 12q24.13 | . | rs397516801 | 0.038 | D | 0.945 | P | 0.655 | P | 0.000 | D | 1 | D | 1.545 | L | -2.43 | D | -2.09 | N | 0.613 | 5.873 | 27.4 | 0.999 | 0.991 | D | 0.395 | D | 0.687 | D | 0.722 | 0 | 5.9 | 1.062 | 1.193 | 0.998 | 1.000 | 16.329 | Deleterious |
| 1159 | 12 | 112450391 | T | C | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450391 | 112450391 | T | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.T211C:p.F71L,PTPN11:NM_080601:exon3:c.T211C:p.F71L | 12q24.13 | . | rs397507512 | 0.0 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1 | D | 3.78 | H | -4.86 | D | -5.18 | D | 0.949 | 6.494 | 31 | 0.999 | 0.985 | D | 1.072 | D | 0.976 | D | 0.722 | 0 | 5.9 | 0.991 | 1.057 | 1.000 | 1.000 | 16.329 | Deleterious |
| 1160 | 12 | 112450394 | G | C | Pathogenic/Likely pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450394 | 112450394 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G214C:p.A72P,PTPN11:NM_080601:exon3:c.G214C:p.A72P | 12q24.13 | . | rs121918453 | 0.04 | D | 0.91 | P | 0.579 | P | 0.000 | D | 1 | D | 0.85 | L | -3.95 | D | -4.31 | D | 0.957 | 5.867 | 27.3 | 0.998 | 0.992 | D | 0.787 | D | 0.823 | D | 0.722 | 0 | 5.01 | 0.917 | 1.044 | 1.000 | 1.000 | 14.802 | Deleterious |
| 1161 | 12 | 112450394 | G | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450394 | 112450394 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G214T:p.A72S,PTPN11:NM_080601:exon3:c.G214T:p.A72S | 12q24.13 | . | rs121918453 | 0.007 | D | 0.903 | P | 0.83 | P | 0.000 | D | 1 | A | 0.905 | L | -3.95 | D | -2.59 | D | 0.851 | 5.765 | 27.0 | 0.997 | 0.991 | D | 0.961 | D | 0.865 | D | 0.722 | 0 | 5.01 | 0.917 | 1.044 | 1.000 | 1.000 | 14.802 | Deleterious |
| 1162 | 12 | 112450395 | C | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450395 | 112450395 | C | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.C215G:p.A72G,PTPN11:NM_080601:exon3:c.C215G:p.A72G | 12q24.13 | . | rs121918454 | 0.048 | D | 0.988 | D | 0.924 | D | 0.000 | D | 1 | A | 1.52 | L | -4.0 | D | -3.45 | D | 0.88 | 6.090 | 28.2 | 0.998 | 0.987 | D | 1.037 | D | 0.896 | D | 0.722 | 0 | 5.01 | 0.871 | 0.931 | 1.000 | 1.000 | 14.802 | Deleterious |
| 1163 | 12 | 112450398 | C | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450398 | 112450398 | C | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.C218T:p.T73I,PTPN11:NM_080601:exon3:c.C218T:p.T73I | 12q24.13 | . | rs121918462 | 0.001 | D | 0.999 | D | 0.984 | D | 0.000 | D | 1 | A | 3.675 | H | -4.24 | D | -5.04 | D | 0.939 | 6.617 | 32 | 0.999 | 0.986 | D | 1.086 | D | 0.967 | D | 0.722 | 0 | 5.9 | 0.871 | 0.931 | 0.994 | 0.998 | 20.279 | Deleterious |
| 1164 | 12 | 112450407 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450407 | 112450407 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A227G:p.E76G,PTPN11:NM_080601:exon3:c.A227G:p.E76G | 12q24.13 | . | rs121918465 | 0.002 | D | 0.99 | D | 0.734 | P | 0.000 | D | 1 | D | 3.575 | H | -4.31 | D | -6.04 | D | 0.909 | 6.621 | 32 | 0.999 | 0.991 | D | 1.091 | D | 0.949 | D | 0.722 | 0 | 5.9 | 1.062 | 1.193 | 0.998 | 0.994 | 16.329 | Deleterious |
| 1165 | 12 | 112450408 | G | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450408 | 112450408 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G228C:p.E76D,PTPN11:NM_080601:exon3:c.G228C:p.E76D | 12q24.13 | . | rs397507514 | 0.022 | D | 0.563 | P | 0.31 | B | 0.000 | D | 1.000 | D | 1.38 | L | -4.13 | D | -2.59 | D | 0.84 | 5.097 | 25.3 | 0.997 | 0.959 | D | 0.293 | D | 0.777 | D | 0.722 | 0 | 1.86 | 0.034 | -0.193 | 0.996 | 0.987 | 8.533 | Deleterious |
| 1166 | 12 | 112450408 | G | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450408 | 112450408 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G228T:p.E76D,PTPN11:NM_080601:exon3:c.G228T:p.E76D | 12q24.13 | . | rs397507514 | 0.022 | D | 0.563 | P | 0.31 | B | 0.000 | D | 1.000 | D | 1.38 | L | -4.13 | D | -2.59 | D | 0.84 | 5.243 | 25.6 | 0.997 | 0.952 | D | 0.293 | D | 0.777 | D | 0.722 | 0 | 1.86 | 0.034 | -0.193 | 0.996 | 0.987 | 8.533 | Deleterious |
| 1167 | 12 | 112450416 | A | G | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450416 | 112450416 | A | G | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A236G:p.Q79R,PTPN11:NM_080601:exon3:c.A236G:p.Q79R | 12q24.13 | . | rs121918466 | 0.004 | D | 0.959 | D | 0.774 | P | 0.000 | D | 1 | A | 1.345 | L | -3.99 | D | -3.0 | D | 0.92 | 5.672 | 26.7 | 0.999 | 0.991 | D | 0.977 | D | 0.880 | D | 0.722 | 0 | 5.9 | 1.062 | 1.193 | 0.999 | 0.998 | 16.329 | Deleterious |
| 1168 | 12 | 112450497 | A | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450497 | 112450497 | A | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.A317C:p.D106A,PTPN11:NM_080601:exon3:c.A317C:p.D106A | 12q24.13 | . | rs397507517 | 0.075 | T | 0.978 | D | 0.651 | P | 0.000 | D | 1 | D | 2.63 | M | -4.0 | D | -6.73 | D | 0.903 | 6.143 | 28.4 | 0.995 | 0.996 | D | 1.012 | D | 0.909 | D | 0.722 | 0 | 6.05 | 1.062 | 1.199 | 1.000 | 1.000 | 16.593 | Deleterious |
| 1169 | 12 | 112450508 | G | A | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112450508 | 112450508 | G | A | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon3:c.G328A:p.E110K,PTPN11:NM_080601:exon3:c.G328A:p.E110K | 12q24.13 | . | rs397507518 | 0.003 | D | 0.997 | D | 0.956 | D | 0.000 | D | 1 | D | 2.705 | M | 2.74 | T | -3.58 | D | 0.963 | 7.343 | 34 | 0.999 | 0.999 | D | 0.320 | D | 0.639 | D | 0.722 | 0 | 6.05 | 0.917 | 1.048 | 1.000 | 1.000 | 20.601 | Deleterious |
| 1170 | 12 | 112453279 | G | C | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112453279 | 112453279 | G | C | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon4:c.G417C:p.E139D,PTPN11:NM_080601:exon4:c.G417C:p.E139D | 12q24.13 | . | rs397507520 | 0.009 | D | 0.992 | D | 0.949 | D | 0.000 | D | 1 | D | 1.5 | L | -2.55 | D | -2.42 | N | 0.877 | 5.878 | 27.4 | 0.999 | 0.961 | D | 0.440 | D | 0.709 | D | 0.732 | 0 | 4.55 | -0.381 | 0.137 | 0.963 | 0.999 | 9.519 | Deleterious |
| 1171 | 12 | 112453279 | G | T | Pathogenic | PTPN11 | . | . | . | . | . | . | . | . | . | . | 12 | 112453279 | 112453279 | G | T | exonic | PTPN11 | . | nonsynonymous SNV | PTPN11:NM_002834:exon4:c.G417T:p.E139D,PTPN11:NM_080601:exon4:c.G417T:p.E139D | 12q24.13 | . | rs397507520 | 0.009 | D | 0.992 | D | 0.949 | D | 0.000 | D | 1 | D | 1.5 | L | -2.55 | D | -2.42 | N | 0.877 | 6.052 | 28.0 | 0.999 | 0.956 | D | 0.440 | D | 0.709 | D | 0.732 | 0 | 4.55 | -0.381 | 0.137 | 0.963 | 0.999 | 9.519 | Deleterious |
| 0 | 1 | 2228866 | G | T | Pathogenic | SKI | . | . | . | . | . | . | . | . | . | . | 1 | 2228866 | 2228866 | G | T | exonic | SKI | . | nonsynonymous SNV | SKI:NM_003036:exon1:c.G100T:p.G34C | 1p36.33 | . | rs387907306 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1.000 | D | 1.24 | L | -5.66 | D | -7.11 | D | 0.84 | 4.766 | 24.7 | 0.996 | 0.903 | D | 1.029 | D | 0.956 | D | 0.767 | 0 | 1.29 | 0.609 | 0.731 | 0.999 | 1.000 | 10.417 | Deleterious |
| 148 | 1 | 161323636 | C | T | Pathogenic | SDHC | . | . | . | . | . | . | . | . | . | . | 1 | 161323636 | 161323636 | C | T | exonic | SDHC | . | stopgain | SDHC:NM_001035511:exon2:c.C43T:p.R15X,SDHC:NM_001035512:exon2:c.C43T:p.R15X,SDHC:NM_001278172:exon2:c.C43T:p.R15X,SDHC:NM_003001:exon2:c.C43T:p.R15X | 1q23.3 | . | rs201286421 | . | . | . | . | . | . | 0.089 | N | 1 | A | . | . | . | . | . | . | . | 10.731 | 36 | 0.998 | 0.854 | D | . | . | . | . | 0.732 | 0 | 4.6 | 0.871 | 0.931 | 0.999 | 0.989 | 11.902 | Deleterious (FATHMM) |
| 169 | 1 | 209625919 | C | T | Pathogenic/Likely pathogenic | LAMB3 | . | . | . | . | . | . | . | . | . | . | 1 | 209625919 | 209625919 | C | T | exonic | LAMB3 | . | synonymous SNV | LAMB3:NM_001017402:exon13:c.C1705A:p.R569R,LAMB3:NM_000228:exon14:c.C1705A:p.R569R,LAMB3:NM_001127641:exon14:c.C1705A:p.R569R | 1q32.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 167 | 1 | 201365630 | G | A | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365630 | 201365630 | G | A | exonic | TNNT2 | . | stopgain | TNNT2:NM_001001432:exon7:c.G229T:p.G77X,TNNT2:NM_001001430:exon8:c.G244T:p.G82X,TNNT2:NM_001001431:exon8:c.G244T:p.G82X,TNNT2:NM_001276347:exon8:c.G244T:p.G82X,TNNT2:NM_000364:exon9:c.G274T:p.G92X,TNNT2:NM_001276345:exon9:c.G274T:p.G92X,TNNT2:NM_001276346:exon9:c.G271T:p.G91X | 1q32.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.034 | 38 | 0.994 | 0.995 | D | . | . | . | . | 0.706 | 0 | 4.68 | 0.871 | 0.014 | 0.997 | 0.855 | 17.549 | Deleterious (FATHMM) |
| 168 | 1 | 201365638 | T | A | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365638 | 201365638 | T | A | exonic | TNNT2 | . | synonymous SNV | TNNT2:NM_001001432:exon7:c.T221T:p.I74I,TNNT2:NM_001001430:exon8:c.T236T:p.I79I,TNNT2:NM_001001431:exon8:c.T236T:p.I79I,TNNT2:NM_001276347:exon8:c.T236T:p.I79I,TNNT2:NM_000364:exon9:c.T266T:p.I89I,TNNT2:NM_001276345:exon9:c.T266T:p.I89I,TNNT2:NM_001276346:exon9:c.T263T:p.I88I | 1q32.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 165 | 1 | 201365297 | G | A | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365297 | 201365297 | G | A | exonic | TNNT2 | . | nonsynonymous SNV | TNNT2:NM_001001432:exon8:c.G260T:p.R87L,TNNT2:NM_001001430:exon9:c.G275T:p.R92L,TNNT2:NM_001001431:exon9:c.G275T:p.R92L,TNNT2:NM_001276347:exon9:c.G275T:p.R92L,TNNT2:NM_000364:exon10:c.G305T:p.R102L,TNNT2:NM_001276345:exon10:c.G305T:p.R102L | 1q32.1 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 1.57 | L | -5.46 | D | -5.63 | D | 0.955 | 7.836 | 35 | 0.999 | 0.957 | D | 1.125 | D | 0.965 | D | 0.626 | 0 | 5.02 | 0.871 | 0.014 | 1.000 | 0.991 | 18.347 | Deleterious |
| 166 | 1 | 201365298 | C | T | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365298 | 201365298 | C | T | exonic | TNNT2 | . | synonymous SNV | TNNT2:NM_001001432:exon8:c.C259A:p.R87R,TNNT2:NM_001001430:exon9:c.C274A:p.R92R,TNNT2:NM_001001431:exon9:c.C274A:p.R92R,TNNT2:NM_001276347:exon9:c.C274A:p.R92R,TNNT2:NM_000364:exon10:c.C304A:p.R102R,TNNT2:NM_001276345:exon10:c.C304A:p.R102R | 1q32.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 163 | 1 | 201365291 | G | A | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365291 | 201365291 | G | A | exonic | TNNT2 | . | nonsynonymous SNV | TNNT2:NM_001001432:exon8:c.G266T:p.R89L,TNNT2:NM_001001430:exon9:c.G281T:p.R94L,TNNT2:NM_001001431:exon9:c.G281T:p.R94L,TNNT2:NM_001276347:exon9:c.G281T:p.R94L,TNNT2:NM_000364:exon10:c.G311T:p.R104L,TNNT2:NM_001276345:exon10:c.G311T:p.R104L | 1q32.1 | . | rs397516457 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.225 | M | -5.46 | D | -6.52 | D | 0.988 | 8.173 | 35 | 0.999 | 0.981 | D | 1.063 | D | 0.980 | D | 0.626 | 0 | 5.02 | 0.871 | 0.014 | 1.000 | 0.998 | 18.347 | Deleterious |
| 164 | 1 | 201365292 | C | T | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365292 | 201365292 | C | T | exonic | TNNT2 | . | nonsynonymous SNV | TNNT2:NM_001001432:exon8:c.C265A:p.R89S,TNNT2:NM_001001430:exon9:c.C280A:p.R94S,TNNT2:NM_001001431:exon9:c.C280A:p.R94S,TNNT2:NM_001276347:exon9:c.C280A:p.R94S,TNNT2:NM_000364:exon10:c.C310A:p.R104S,TNNT2:NM_001276345:exon10:c.C310A:p.R104S | 1q32.1 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.225 | M | -5.43 | D | -5.59 | D | 0.992 | 7.298 | 34 | 0.998 | 0.947 | D | 1.063 | D | 0.980 | D | 0.626 | 0 | 5.02 | 0.917 | 0.953 | 1.000 | 0.998 | 18.347 | Deleterious |
| 161 | 1 | 201364336 | C | T | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201364336 | 201364336 | C | T | exonic | TNNT2 | . | synonymous SNV | TNNT2:NM_001001432:exon9:c.C406A:p.R136R,TNNT2:NM_001001430:exon10:c.C421A:p.R141R,TNNT2:NM_001001431:exon10:c.C421A:p.R141R,TNNT2:NM_001276346:exon10:c.C331A:p.R111R,TNNT2:NM_001276347:exon10:c.C421A:p.R141R,TNNT2:NM_000364:exon11:c.C451A:p.R151R,TNNT2:NM_001276345:exon11:c.C451A:p.R151R | 1q32.1 | . | rs74315379 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 162 | 1 | 201365242 | T | G | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201365242 | 201365242 | T | G | exonic | TNNT2 | . | synonymous SNV | TNNT2:NM_001001432:exon8:c.T315C:p.F105F,TNNT2:NM_001001430:exon9:c.T330C:p.F110F,TNNT2:NM_001001431:exon9:c.T330C:p.F110F,TNNT2:NM_001276347:exon9:c.T330C:p.F110F,TNNT2:NM_000364:exon10:c.T360C:p.F120F,TNNT2:NM_001276345:exon10:c.T360C:p.F120F | 1q32.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 159 | 1 | 197435170 | G | A | Pathogenic | CRB1 | . | . | . | . | . | . | . | . | . | . | 1 | 197435170 | 197435170 | G | A | exonic | CRB1 | . | nonsynonymous SNV | CRB1:NM_001193640:exon7:c.G2971A:p.G991R,CRB1:NM_201253:exon9:c.G3307A:p.G1103R,CRB1:NM_001257965:exon12:c.G3235A:p.G1079R | 1q31.3 | . | rs62636275 | 0.002 | D | 0.999 | D | 0.929 | D | . | . | 1.000 | A | 1.965 | M | -0.44 | T | -5.99 | D | 0.77 | 4.553 | 24.4 | 0.992 | 0.052 | N | -0.201 | T | 0.372 | T | 0.487 | 0 | -3.14 | -0.011 | 0.135 | 0.929 | 0.993 | 13.146 | Tolerated |
| 160 | 1 | 201359217 | G | A | Pathogenic/Likely pathogenic | TNNT2 | . | . | . | . | . | . | . | . | . | . | 1 | 201359217 | 201359217 | G | A | exonic | TNNT2 | . | nonsynonymous SNV | TNNT2:NM_001001432:exon14:c.G842T:p.W281L,TNNT2:NM_001001431:exon15:c.G851T:p.W284L,TNNT2:NM_001276346:exon15:c.G761T:p.W254L,TNNT2:NM_000364:exon16:c.G881T:p.W294L,TNNT2:NM_001001430:exon16:c.G860T:p.W287L,TNNT2:NM_001276347:exon16:c.G860T:p.W287L,TNNT2:NM_001276345:exon17:c.G890T:p.W297L | 1q32.1 | . | . | 0.027 | D | 0.058 | B | 0.038 | B | 0.031 | N | 1.000 | D | 1.365 | L | 2.94 | T | -5.14 | D | 0.631 | 6.941 | 33 | 0.969 | 0.983 | D | -1.089 | T | 0.034 | T | 0.718 | 0 | 3.98 | 0.871 | 0.888 | 0.997 | 0.997 | 13.363 | Tolerated |
| 157 | 1 | 197133348 | T | C | Pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197133348 | 197133348 | T | C | splicing | ASPM | NM_001206846:exon6:c.2419+2A>G,NM_018136:exon6:c.2419+2A>G | . | . | 1q31.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.990 | 25.1 | 0.994 | 0.992 | D | . | . | . | . | 0.106 | 0 | 5.27 | 1.062 | 1.199 | 0.996 | 0.993 | 15.493 | Deleterious (FATHMM) |
| 158 | 1 | 197143114 | C | T | Pathogenic/Likely pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197143114 | 197143114 | C | T | exonic | ASPM | . | nonsynonymous SNV | ASPM:NM_001206846:exon3:c.C1138A:p.Q380K,ASPM:NM_018136:exon3:c.C1138A:p.Q380K | 1q31.3 | . | rs587783215 | 0.849 | T | 0.004 | B | 0.002 | B | 0.224 | N | 1 | N | 1.295 | L | 1.75 | T | -0.4 | N | 0.099 | 0.546 | 7.775 | 0.873 | 0.038 | N | -1.014 | T | 0.081 | T | 0.651 | 0 | 0.697 | -0.714 | 0.038 | 0.038 | 0.441 | 4.479 | Tolerated |
| 155 | 1 | 197091032 | C | T | Pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197091032 | 197091032 | C | T | exonic | ASPM | . | synonymous SNV | ASPM:NM_001206846:exon22:c.C4699A:p.R1567R,ASPM:NM_018136:exon23:c.C9454A:p.R3152R | 1q31.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 156 | 1 | 197093168 | C | T | Pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197093168 | 197093168 | C | T | exonic | ASPM | . | nonsynonymous SNV | ASPM:NM_001206846:exon20:c.C4423A:p.Q1475K,ASPM:NM_018136:exon21:c.C9178A:p.Q3060K | 1q31.3 | . | . | 0.019 | D | 0.997 | D | 0.976 | D | 0.009 | N | 0.990 | D | 3.2 | M | -0.83 | T | -1.84 | N | 0.708 | 3.946 | 23.6 | 0.994 | 0.954 | D | 0.999 | D | 0.942 | D | 0.732 | 0 | 3.22 | 0.917 | 0.998 | 0.878 | 0.996 | 6.296 | Deleterious |
| 153 | 1 | 197090295 | C | T | Pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197090295 | 197090295 | C | T | exonic | ASPM | . | synonymous SNV | ASPM:NM_001206846:exon23:c.C4975A:p.R1659R,ASPM:NM_018136:exon24:c.C9730A:p.R3244R | 1q31.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 154 | 1 | 197090328 | C | T | Pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197090328 | 197090328 | C | T | exonic | ASPM | . | synonymous SNV | ASPM:NM_001206846:exon23:c.C4942A:p.R1648R,ASPM:NM_018136:exon24:c.C9697A:p.R3233R | 1q31.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 151 | 1 | 179561327 | G | A | Pathogenic | NPHS2 | . | . | . | . | . | . | . | . | . | . | 1 | 179561327 | 179561327 | G | A | exonic | NPHS2 | . | nonsynonymous SNV | NPHS2:NM_001297575:exon3:c.G413T:p.R138L,NPHS2:NM_014625:exon3:c.G413T:p.R138L | 1q25.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.675 | M | -3.85 | D | -6.72 | D | 0.948 | 7.700 | 35 | 0.996 | 0.976 | D | 1.057 | D | 0.986 | D | 0.487 | 0 | 5.82 | 0.871 | 0.935 | 0.999 | 0.998 | 18.678 | Deleterious |
| 152 | 1 | 197090004 | C | T | Pathogenic | ASPM | . | . | . | . | . | . | . | . | . | . | 1 | 197090004 | 197090004 | C | T | exonic | ASPM | . | synonymous SNV | ASPM:NM_001206846:exon24:c.C5155A:p.R1719R,ASPM:NM_018136:exon25:c.C9910A:p.R3304R | 1q31.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 149 | 1 | 161356832 | C | T | Pathogenic | SDHC | . | . | . | . | . | . | . | . | . | . | 1 | 161356832 | 161356832 | C | T | exonic | SDHC | . | stopgain | SDHC:NM_001035513:exon3:c.C238T:p.R80X,SDHC:NM_001035512:exon4:c.C295T:p.R99X,SDHC:NM_003001:exon5:c.C397T:p.R133X | 1q23.3 | . | rs764575966 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 14.753 | 47 | 0.998 | 0.748 | D | . | . | . | . | 0.722 | 0 | 5.24 | 0.868 | 0.841 | 1.000 | 0.996 | 16.695 | Deleterious (FATHMM) |
| 150 | 1 | 173831632 | T | C | Pathogenic | DARS2 | . | . | . | . | . | . | . | . | . | . | 1 | 173831632 | 173831632 | T | C | splicing | DARS2 | NM_018122:exon5:c.492+2T>C | . | . | 1q25.1 | 0.0002 | rs142433332 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 4.772 | 24.7 | 0.992 | 0.975 | D | . | . | . | . | 0.106 | 0 | 5.77 | 0.991 | 1.061 | 0.823 | 0.839 | 15.376 | Deleterious (FATHMM) |
| 1 | 1 | 2228866 | G | A | Pathogenic | SKI | . | . | . | . | . | . | . | . | . | . | 1 | 2228866 | 2228866 | G | A | exonic | SKI | . | nonsynonymous SNV | SKI:NM_003036:exon1:c.G100A:p.G34S | 1p36.33 | . | rs387907306 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | U | 1.000 | D | 1.24 | L | -5.62 | D | -4.71 | D | 0.831 | 3.114 | 22.5 | 0.994 | 0.863 | D | 1.029 | D | 0.956 | D | 0.767 | 0 | 1.29 | 0.609 | 0.731 | 0.999 | 1.000 | 10.417 | Deleterious |
| 2 | 1 | 9726972 | G | A | Pathogenic | PIK3CD | . | . | . | . | . | . | . | . | . | . | 1 | 9726972 | 9726972 | G | A | exonic | PIK3CD | . | nonsynonymous SNV | PIK3CD:NM_005026:exon24:c.G3061A:p.E1021K | 1p36.22 | . | rs397518423 | 0.002 | D | 1.0 | D | 0.984 | D | 0.000 | D | 1.000 | D | 1.69 | L | -1.49 | T | -3.51 | D | 0.701 | 6.502 | 31 | 0.994 | 0.974 | D | 0.233 | D | 0.593 | D | 0.672 | 0 | 3.72 | 0.917 | 0.949 | 0.985 | 0.993 | 14.041 | Deleterious |
| 3 | 1 | 11992606 | T | C | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 11992606 | 11992606 | T | C | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon3:c.T227C:p.L76P,MFN2:NM_014874:exon4:c.T227C:p.L76P | 1p36.22 | . | rs28940293 | 0.257 | T | 0.74 | P | 0.243 | B | 0.009 | N | 1 | D | 1.65 | L | -3.61 | D | -1.66 | N | 0.868 | 2.449 | 19.14 | 0.993 | 0.886 | D | 1.040 | D | 0.925 | D | 0.707 | 0 | 5.39 | 0.991 | 1.061 | 0.996 | 1.000 | 14.586 | Deleterious |
| 4 | 1 | 11992659 | C | T | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 11992659 | 11992659 | C | T | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon3:c.C280T:p.R94W,MFN2:NM_014874:exon4:c.C280T:p.R94W | 1p36.22 | . | rs119103263 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 2.54 | M | -3.78 | D | -7.15 | D | 0.96 | 7.337 | 34 | 0.999 | 0.968 | D | 1.127 | D | 0.958 | D | 0.707 | 0 | 3.57 | -0.639 | -0.162 | 0.968 | 0.987 | 13.321 | Deleterious |
| 5 | 1 | 11992660 | G | A | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 11992660 | 11992660 | G | A | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon3:c.G281A:p.R94Q,MFN2:NM_014874:exon4:c.G281A:p.R94Q | 1p36.22 | . | rs28940291 | 0.0 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1 | A | 2.54 | M | -3.75 | D | -3.39 | D | 0.873 | 6.487 | 30 | 1.000 | 0.996 | D | 1.096 | D | 0.962 | D | 0.707 | 0 | 5.4 | 0.917 | 1.048 | 0.983 | 0.988 | 18.154 | Deleterious |
| 6 | 1 | 11992689 | C | T | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 11992689 | 11992689 | C | T | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon3:c.C310T:p.R104W,MFN2:NM_014874:exon4:c.C310T:p.R104W | 1p36.22 | . | rs119103268 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 2.73 | M | -4.18 | D | -7.36 | D | 0.966 | 7.210 | 34 | 0.999 | 0.949 | D | 1.111 | D | 0.930 | D | 0.707 | 0 | 2.2 | -0.058 | 0.935 | 0.960 | 0.989 | 12.635 | Deleterious |
| 7 | 1 | 11996158 | C | T | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 11996158 | 11996158 | C | T | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon4:c.C314T:p.T105M,MFN2:NM_014874:exon5:c.C314T:p.T105M | 1p36.22 | . | rs863224069 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.695 | M | -4.13 | D | -5.53 | D | 0.964 | 6.907 | 33 | 0.999 | 0.948 | D | 1.029 | D | 0.934 | D | 0.707 | 0 | 4.7 | 0.871 | 0.935 | 0.994 | 0.997 | 15.114 | Deleterious |
| 8 | 1 | 11997316 | A | G | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 11997316 | 11997316 | A | G | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon5:c.A494G:p.H165R,MFN2:NM_014874:exon6:c.A494G:p.H165R | 1p36.22 | . | rs863224970 | 0.001 | D | 1.0 | D | 0.991 | D | 0.000 | D | 1 | D | 1.735 | L | -4.07 | D | -5.63 | D | 0.949 | 5.419 | 26.0 | 0.996 | 0.968 | D | 0.950 | D | 0.906 | D | 0.707 | 0 | 5.3 | 1.062 | 1.187 | 1.000 | 0.954 | 14.462 | Deleterious |
| 9 | 1 | 12001423 | G | A | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 12001423 | 12001423 | G | A | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon8:c.G839A:p.R280H,MFN2:NM_014874:exon9:c.G839A:p.R280H | 1p36.22 | . | rs28940294 | 0.0 | D | 1.0 | D | 0.937 | D | 0.000 | D | 1 | A | 2.71 | M | -3.71 | D | -4.74 | D | 0.906 | 6.957 | 33 | 1.000 | 0.983 | D | 1.050 | D | 0.926 | D | 0.737 | 0 | 5.23 | 0.917 | 1.045 | 0.998 | 0.970 | 18.152 | Deleterious |
| 10 | 1 | 12002033 | C | T | Pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 12002033 | 12002033 | C | T | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon10:c.C1090T:p.R364W,MFN2:NM_014874:exon11:c.C1090T:p.R364W | 1p36.22 | . | rs119103265 | 0.0 | D | 1.0 | D | 0.976 | D | 0.000 | D | 1 | A | 2.625 | M | -4.47 | D | -6.35 | D | 0.921 | 7.424 | 34 | 0.999 | 0.890 | D | 1.133 | D | 0.932 | D | 0.707 | 0 | 4.7 | 0.871 | 0.935 | 1.000 | 0.997 | 7.566 | Deleterious |
| 11 | 1 | 12011510 | G | C | Pathogenic/Likely pathogenic | MFN2 | . | . | . | . | . | . | . | . | . | . | 1 | 12011510 | 12011510 | G | C | exonic | MFN2 | . | nonsynonymous SNV | MFN2:NM_001127660:exon18:c.G2219C:p.W740S,MFN2:NM_014874:exon19:c.G2219C:p.W740S | 1p36.22 | . | rs28940292 | 0.11 | T | 0.346 | B | 0.326 | B | 0.000 | D | 1 | A | 1.5 | L | -3.69 | D | -4.55 | D | 0.979 | 5.777 | 27.0 | 0.981 | 0.985 | D | 0.576 | D | 0.819 | D | 0.707 | 0 | 5.3 | 0.917 | 0.998 | 0.999 | 0.995 | 18.112 | Deleterious |
| 12 | 1 | 17022648 | G | A | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17022648 | 17022648 | G | A | exonic | SDHB | . | nonsynonymous SNV | SDHB:NM_003000:exon7:c.G725T:p.R242L | 1p36.13 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.68 | M | -5.03 | D | -5.52 | D | 0.955 | 8.400 | 35 | 0.999 | 0.996 | D | 1.102 | D | 0.971 | D | 0.707 | 0 | 5.62 | 0.871 | 0.935 | 0.999 | 1.000 | 18.588 | Deleterious |
| 13 | 1 | 17022684 | G | A | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17022684 | 17022684 | G | A | exonic | SDHB | . | nonsynonymous SNV | SDHB:NM_003000:exon7:c.G689T:p.R230L | 1p36.13 | . | rs587782604 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 3.735 | H | -4.23 | D | -5.86 | D | 0.985 | 8.195 | 35 | 0.999 | 0.995 | D | 1.092 | D | 0.967 | D | 0.707 | 0 | 5.51 | 0.871 | 0.935 | 0.999 | 1.000 | 18.337 | Deleterious |
| 14 | 1 | 17023975 | C | T | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17023975 | 17023975 | C | T | exonic | SDHB | . | nonsynonymous SNV | SDHB:NM_003000:exon6:c.C640A:p.Q214K | 1p36.13 | . | . | 0.001 | D | 0.999 | D | 0.993 | D | 0.000 | D | 1 | D | 2.075 | M | -5.04 | D | -3.46 | D | 0.927 | 6.447 | 29.8 | 0.995 | 0.997 | D | 1.112 | D | 0.964 | D | 0.732 | 0 | 5.49 | 0.917 | 0.902 | 0.995 | 0.981 | 18.301 | Deleterious |
| 15 | 1 | 17024076 | A | G | Pathogenic/Likely pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17024076 | 17024076 | A | G | splicing | SDHB | NM_003000:exon6:c.541-2T>C | . | . | 1p36.13 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.136 | 25.4 | 0.995 | 0.992 | D | . | . | . | . | 0.322 | 0 | 5.19 | 0.673 | 1.061 | 0.932 | 0.954 | 14.565 | Deleterious (FATHMM) |
| 16 | 1 | 17028599 | G | A | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17028599 | 17028599 | G | A | splicing | SDHB | NM_003000:exon4:c.423+1C>T | . | . | 1p36.13 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.622 | 32 | 0.995 | 0.989 | D | . | . | . | . | 0.295 | 0 | 6.17 | 0.871 | 0.935 | 0.975 | 0.997 | 19.443 | Deleterious (FATHMM) |
| 17 | 1 | 17028605 | G | T | Pathogenic/Likely pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17028605 | 17028605 | G | T | exonic | SDHB | . | nonsynonymous SNV | SDHB:NM_003000:exon4:c.G418A:p.V140I | 1p36.13 | . | . | 0.058 | T | 0.647 | P | 0.415 | B | 0.000 | D | 1 | D | 1.53 | L | -5.11 | D | -0.76 | N | 0.536 | 3.979 | 23.6 | 0.998 | 0.970 | D | 0.951 | D | 0.915 | D | 0.707 | 0 | 5.25 | 0.871 | 0.935 | 0.990 | 0.996 | 14.768 | Deleterious |
| 18 | 1 | 17028737 | G | C | Pathogenic/Likely pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17028737 | 17028737 | G | C | splicing | SDHB | NM_003000:exon4:c.287-1C>G | . | . | 1p36.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 19 | 1 | 17033078 | C | T | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17033078 | 17033078 | C | T | exonic | SDHB | . | synonymous SNV | SDHB:NM_003000:exon3:c.C268A:p.R90R | 1p36.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 20 | 1 | 17044824 | G | A | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17044824 | 17044824 | G | A | exonic | SDHB | . | nonsynonymous SNV | SDHB:NM_003000:exon2:c.G137T:p.R46L | 1p36.13 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.57 | H | -6.26 | D | -5.51 | D | 0.962 | 8.108 | 35 | 0.999 | 0.982 | D | 0.949 | D | 0.993 | D | 0.706 | 0 | 5.65 | 0.871 | 0.935 | 0.999 | 0.999 | 18.456 | Deleterious |
| 21 | 1 | 17044825 | C | T | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17044825 | 17044825 | C | T | exonic | SDHB | . | synonymous SNV | SDHB:NM_003000:exon2:c.C136A:p.R46R | 1p36.13 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 22 | 1 | 17053947 | G | T | Pathogenic | SDHB | . | . | . | . | . | . | . | . | . | . | 1 | 17053947 | 17053947 | G | T | splicing | SDHB | NM_003000:exon1:c.72+1C>A | . | . | 1p36.13 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.516 | 26.3 | 0.994 | 0.692 | D | . | . | . | . | 0.090 | 0 | 5.13 | 0.871 | 0.935 | 0.860 | 0.375 | 14.092 | Deleterious (FATHMM) |
| 23 | 1 | 21563158 | G | A | Pathogenic/Likely pathogenic | ALPL | . | . | . | . | . | . | . | . | . | . | 1 | 21563158 | 21563158 | G | A | exonic | ALPL | . | nonsynonymous SNV | ALPL:NM_001177520:exon3:c.G115A:p.A39T,ALPL:NM_001127501:exon4:c.G181A:p.A61T,ALPL:NM_000478:exon5:c.G346A:p.A116T | 1p36.12 | . | rs121918013 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.705 | H | -5.18 | D | -3.83 | D | 0.974 | 7.107 | 34 | 0.999 | 0.997 | D | 1.059 | D | 0.978 | D | 0.706 | 0 | 4.49 | 0.917 | 0.953 | 0.997 | 0.929 | 15.895 | Deleterious |
| 24 | 1 | 21563219 | G | A | Pathogenic/Likely pathogenic | ALPL | . | . | . | . | . | . | . | . | . | . | 1 | 21563219 | 21563219 | G | A | exonic | ALPL | . | nonsynonymous SNV | ALPL:NM_001177520:exon3:c.G176A:p.R59H,ALPL:NM_001127501:exon4:c.G242A:p.R81H,ALPL:NM_000478:exon5:c.G407A:p.R136H | 1p36.12 | 7.7e-05 | rs121918011 | 0.515 | T | 1.0 | D | 0.994 | D | 0.000 | D | 1.000 | A | 1.87 | L | -3.91 | D | -0.19 | N | 0.827 | 4.796 | 24.8 | 0.978 | 0.969 | D | 0.805 | D | 0.885 | D | 0.706 | 0 | 4.32 | 0.917 | 0.953 | 0.015 | 0.135 | 15.528 | Deleterious |
| 25 | 1 | 21564139 | G | A | Pathogenic | ALPL | . | . | . | . | . | . | . | . | . | . | 1 | 21564139 | 21564139 | G | A | exonic | ALPL | . | nonsynonymous SNV | ALPL:NM_001177520:exon4:c.G340A:p.E114K,ALPL:NM_001127501:exon5:c.G406A:p.E136K,ALPL:NM_000478:exon6:c.G571A:p.E191K | 1p36.12 | 0.0008 | rs121918007 | 0.164 | T | 0.973 | D | 0.548 | P | 0.000 | D | 1.000 | A | 1.395 | L | -4.11 | D | -2.16 | N | 0.938 | 6.320 | 29.2 | 0.999 | 0.979 | D | 0.894 | D | 0.843 | D | 0.718 | 0 | 5.17 | 0.917 | 0.953 | 1.000 | 0.997 | 17.215 | Deleterious |
| 26 | 1 | 21575868 | A | T | Pathogenic | ALPL | . | . | . | . | . | . | . | . | . | . | 1 | 21575868 | 21575868 | A | T | exonic | ALPL | . | nonsynonymous SNV | ALPL:NM_001177520:exon8:c.A902T:p.D301V,ALPL:NM_001127501:exon9:c.A968T:p.D323V,ALPL:NM_000478:exon10:c.A1133T:p.D378V | 1p36.12 | . | rs121918008 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.545 | H | -8.29 | D | -8.51 | D | 0.975 | 5.975 | 27.7 | 0.995 | 0.991 | D | 0.913 | D | 0.998 | D | 0.635 | 0 | 4.91 | 1.062 | 1.199 | 0.992 | 0.954 | 12.512 | Deleterious |
| 27 | 1 | 21576582 | A | G | Pathogenic/Likely pathogenic | ALPL | . | . | . | . | . | . | . | . | . | . | 1 | 21576582 | 21576582 | A | G | exonic | ALPL | . | nonsynonymous SNV | ALPL:NM_001177520:exon9:c.A1019G:p.N340S,ALPL:NM_001127501:exon10:c.A1085G:p.N362S,ALPL:NM_000478:exon11:c.A1250G:p.N417S | 1p36.12 | 7.7e-05 | rs121918014 | 0.018 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | A | 3.14 | M | -4.25 | D | -4.68 | D | 0.168 | 5.625 | 26.6 | 0.999 | 0.995 | D | 1.116 | D | 0.951 | D | 0.635 | 0 | 5.13 | 1.062 | 1.194 | 0.993 | 0.993 | 12.944 | Deleterious |
| 28 | 1 | 23820545 | G | T | Pathogenic | HMGCL | . | . | . | . | . | . | . | . | . | . | 1 | 23820545 | 23820545 | G | T | exonic | HMGCL | . | nonsynonymous SNV | HMGCL:NM_000191:exon2:c.G109A:p.E37K,HMGCL:NM_001166059:exon2:c.G109A:p.E37K | 1p36.11 | . | . | 0.002 | D | 0.99 | D | 0.844 | P | 0.000 | D | 1 | D | 0 | N | -5.18 | D | -3.82 | D | 0.992 | 5.859 | 27.3 | 0.999 | 0.982 | D | -0.958 | T | 0.138 | T | 0.732 | 0 | 5.27 | 0.871 | 0.934 | 0.998 | 1.000 | 17.893 | Tolerated |
| 29 | 1 | 25809753 | G | A | Pathogenic | SELENON | . | . | . | . | . | . | . | . | . | . | 1 | 25809753 | 25809753 | G | A | exonic | SEPN1 | . | unknown | UNKNOWN | 1p36.11 | 0.0005 | rs121908188 | 0.01 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 2.215 | M | -3.89 | D | -3.39 | D | 0.981 | 7.207 | 34 | 0.999 | 0.991 | D | 1.036 | D | 0.915 | D | 0.707 | 0 | 4.84 | 0.917 | 1.048 | 0.998 | 1.000 | 18.132 | Deleterious |
| 30 | 1 | 26795056 | C | A | Pathogenic | PIGV | . | . | . | . | . | . | . | . | . | . | 1 | 26795056 | 26795056 | C | A | exonic | PIGV | . | nonsynonymous SNV | PIGV:NM_001202554:exon3:c.C1022A:p.A341E,PIGV:NM_017837:exon3:c.C1022A:p.A341E | 1p36.11 | 0.0002 | rs139073416 | 0.003 | D | 0.997 | D | 0.954 | D | 0.000 | D | 1 | D | 2.79 | M | -1.99 | D | -2.24 | N | 0.935 | 5.794 | 27.1 | 0.990 | 0.993 | D | 0.697 | D | 0.758 | D | 0.737 | 0 | 4.13 | 0.868 | 0.890 | 0.991 | 0.998 | 15.599 | Deleterious |
| 31 | 1 | 40089495 | C | T | Pathogenic | PPT1 | . | . | . | . | . | . | . | . | . | . | 1 | 40089495 | 40089495 | C | T | exonic | PPT1 | . | synonymous SNV | PPT1:NM_001142604:exon2:c.C142A:p.R48R,PPT1:NM_000310:exon5:c.C451A:p.R151R | 1p34.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 32 | 1 | 40097210 | T | A | Pathogenic/Likely pathogenic | PPT1 | . | . | . | . | . | . | . | . | . | . | 1 | 40097210 | 40097210 | T | A | exonic | PPT1 | . | synonymous SNV | PPT1:NM_000310:exon1:c.T29T:p.L10L,PPT1:NM_001142604:exon1:c.T29T:p.L10L | 1p34.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 33 | 1 | 42757782 | G | T | Pathogenic | P3H1 | . | . | . | . | . | . | . | . | . | . | 1 | 42757782 | 42757782 | G | T | splicing | P3H1 | NM_022356:exon5:c.1080+1C>A,NM_001146289:exon5:c.1080+1C>A,NM_001243246:exon5:c.1080+1C>A | . | . | 1p34.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.328 | 25.8 | 0.995 | 0.996 | D | . | . | . | . | 0.359 | 0 | 5.84 | 0.871 | 0.935 | 0.890 | 0.933 | 17.643 | Deleterious (FATHMM) |
| 34 | 1 | 42929242 | G | A | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42929242 | 42929242 | G | A | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon7:c.G940T:p.G314C | 1p34.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.365 | H | -1.26 | T | -8.78 | D | 0.954 | 8.012 | 35 | 0.998 | 0.974 | D | 0.880 | D | 0.783 | D | 0.707 | 0 | 5.38 | 0.871 | 0.935 | 0.940 | 0.986 | 16.645 | Deleterious |
| 35 | 1 | 42929298 | C | T | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42929298 | 42929298 | C | T | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon7:c.C884A:p.T295K | 1p34.2 | . | . | 0.001 | D | 0.999 | D | 0.99 | D | 0.000 | D | 1 | D | 3.665 | H | -1.5 | D | -5.83 | D | 0.947 | 7.488 | 34 | 0.995 | 0.986 | D | 0.787 | D | 0.767 | D | 0.707 | 0 | 5.24 | 0.917 | 1.048 | 0.997 | 0.989 | 16.345 | Deleterious |
| 36 | 1 | 42929613 | C | T | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42929613 | 42929613 | C | T | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon6:c.C847A:p.Q283K | 1p34.2 | . | . | 0.001 | D | 0.998 | D | 0.957 | D | 0.000 | D | 1 | D | 4.8 | H | -1.44 | T | -3.87 | D | 0.896 | 5.803 | 27.1 | 0.996 | 0.983 | D | 0.987 | D | 0.827 | D | 0.707 | 0 | 5.14 | 0.917 | 0.974 | 1.000 | 1.000 | 16.110 | Deleterious |
| 37 | 1 | 42929637 | G | A | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42929637 | 42929637 | G | A | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon6:c.G823T:p.A275S | 1p34.2 | . | . | 0.48 | T | 0.256 | B | 0.279 | B | 0.000 | D | 1 | D | 1.035 | L | -0.9 | T | -1.84 | N | 0.554 | 5.304 | 25.8 | 0.992 | 0.975 | D | -0.664 | T | 0.302 | T | 0.707 | 0 | 5.14 | 0.871 | 0.870 | 0.994 | 0.996 | 16.110 | Tolerated |
| 38 | 1 | 42929712 | C | T | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42929712 | 42929712 | C | T | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon6:c.C748A:p.Q250K | 1p34.2 | . | . | 1.0 | T | 0.001 | B | 0.01 | B | 0.000 | D | 1.000 | D | -0.415 | N | -0.74 | T | 0.77 | N | 0.167 | 0.543 | 7.750 | 0.851 | 0.894 | D | -0.857 | T | 0.156 | T | 0.707 | 0 | 5.14 | 0.917 | 0.974 | 1.000 | 0.943 | 16.110 | Tolerated |
| 39 | 1 | 42929736 | C | T | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42929736 | 42929736 | C | T | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon6:c.C724A:p.Q242K | 1p34.2 | . | . | 0.091 | T | 0.129 | B | 0.063 | B | 0.000 | N | 1.000 | D | 1.74 | L | -0.84 | T | -1.77 | N | 0.247 | 3.914 | 23.5 | 0.992 | 0.942 | D | -0.590 | T | 0.308 | T | 0.707 | 0 | 4.2 | 0.917 | 0.974 | 0.998 | 1.000 | 12.527 | Tolerated |
| 40 | 1 | 42930765 | G | A | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42930765 | 42930765 | G | A | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon4:c.G377T:p.R126L | 1p34.2 | . | rs80359816 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.805 | H | -2.63 | D | -6.51 | D | 0.997 | 7.972 | 35 | 0.999 | 0.979 | D | 1.097 | D | 0.930 | D | 0.707 | 0 | 5.51 | 0.871 | 0.935 | 1.000 | 1.000 | 16.915 | Deleterious |
| 41 | 1 | 42930766 | C | T | Pathogenic | SLC2A1 | . | . | . | . | . | . | . | . | . | . | 1 | 42930766 | 42930766 | C | T | exonic | SLC2A1 | . | nonsynonymous SNV | SLC2A1:NM_006516:exon4:c.C376A:p.R126S | 1p34.2 | . | . | 0.02 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.805 | H | -2.63 | D | -5.58 | D | 0.99 | 7.012 | 33 | 0.998 | 0.963 | D | 1.097 | D | 0.930 | D | 0.707 | 0 | 5.51 | 0.917 | 1.048 | 1.000 | 1.000 | 16.915 | Deleterious |
| 42 | 1 | 45331220 | G | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45331220 | 45331220 | G | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon14:c.G1396A:p.E466K,MUTYH:NM_001048172:exon14:c.G1357A:p.E453K,MUTYH:NM_001048173:exon14:c.G1354A:p.E452K,MUTYH:NM_001048174:exon14:c.G1354A:p.E452K,MUTYH:NM_001128425:exon14:c.G1438A:p.E480K,MUTYH:NM_001293190:exon14:c.G1399A:p.E467K,MUTYH:NM_001293191:exon14:c.G1387A:p.E463K,MUTYH:NM_001293192:exon14:c.G1078A:p.E360K,MUTYH:NM_001293196:exon14:c.G1078A:p.E360K,MUTYH:NM_012222:exon14:c.G1429A:p.E477K,MUTYH:NM_001293195:exon15:c.G1354A:p.E452K | 1p34.1 | . | . | 0.119 | T | 0.981 | D | 0.854 | P | 0.000 | D | 1 | D | 2.34 | M | -2.82 | D | -1.8 | N | 0.568 | 4.994 | 25.1 | 0.998 | 0.995 | D | 0.743 | D | 0.817 | D | 0.707 | 0 | 5.16 | 0.871 | 0.932 | 0.408 | 0.514 | 18.657 | Deleterious |
| 43 | 1 | 45331529 | C | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45331529 | 45331529 | C | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon13:c.C1172A:p.P391Q,MUTYH:NM_001048172:exon13:c.C1133A:p.P378Q,MUTYH:NM_001048173:exon13:c.C1130A:p.P377Q,MUTYH:NM_001048174:exon13:c.C1130A:p.P377Q,MUTYH:NM_001128425:exon13:c.C1214A:p.P405Q,MUTYH:NM_001293190:exon13:c.C1175A:p.P392Q,MUTYH:NM_001293191:exon13:c.C1163A:p.P388Q,MUTYH:NM_001293192:exon13:c.C854A:p.P285Q,MUTYH:NM_001293196:exon13:c.C854A:p.P285Q,MUTYH:NM_012222:exon13:c.C1205A:p.P402Q,MUTYH:NM_001293195:exon14:c.C1130A:p.P377Q | 1p34.1 | . | . | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.75 | H | -5.24 | D | -7.33 | D | 0.937 | 5.834 | 27.2 | 0.993 | 0.998 | D | 0.472 | D | 0.602 | D | 0.672 | 0 | 4.64 | 0.917 | 1.048 | 0.741 | 0.998 | 14.350 | Deleterious |
| 44 | 1 | 45331556 | G | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45331556 | 45331556 | G | A | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon13:c.G1145T:p.G382V,MUTYH:NM_001048172:exon13:c.G1106T:p.G369V,MUTYH:NM_001048173:exon13:c.G1103T:p.G368V,MUTYH:NM_001048174:exon13:c.G1103T:p.G368V,MUTYH:NM_001128425:exon13:c.G1187T:p.G396V,MUTYH:NM_001293190:exon13:c.G1148T:p.G383V,MUTYH:NM_001293191:exon13:c.G1136T:p.G379V,MUTYH:NM_001293192:exon13:c.G827T:p.G276V,MUTYH:NM_001293196:exon13:c.G827T:p.G276V,MUTYH:NM_012222:exon13:c.G1178T:p.G393V,MUTYH:NM_001293195:exon14:c.G1103T:p.G368V | 1p34.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.745 | H | -3.81 | D | -6.07 | D | 0.954 | 6.388 | 29.5 | 0.998 | 0.998 | D | 0.496 | D | 0.636 | D | 0.672 | 0 | 5.4 | 0.871 | 0.935 | 0.965 | 0.980 | 19.186 | Deleterious |
| 45 | 1 | 45331558 | A | G | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45331558 | 45331558 | A | G | splicing | MUTYH | NM_001048173:exon13:c.1103-2T>C,NM_001048172:exon13:c.1106-2T>C,NM_001048171:exon13:c.1145-2T>C,NM_012222:exon13:c.1178-2T>C,NM_001293190:exon13:c.1148-2T>C,NM_001293196:exon13:c.827-2T>C,NM_001293195:exon14:c.1103-2T>C,NM_001293192:exon13:c.827-2T>C,NM_001293191:exon13:c.1136-2T>C,NM_001048174:exon13:c.1103-2T>C,NM_001128425:exon13:c.1187-2T>C | . | . | 1p34.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.407 | 23.0 | 0.925 | 0.997 | D | . | . | . | . | 0.116 | 0 | 4.26 | 0.991 | 1.061 | 0.945 | 0.953 | 11.686 | Deleterious (FATHMM) |
| 46 | 1 | 45331835 | C | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45331835 | 45331835 | C | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon12:c.C970A:p.Q324K,MUTYH:NM_001048172:exon12:c.C931A:p.Q311K,MUTYH:NM_001048173:exon12:c.C928A:p.Q310K,MUTYH:NM_001048174:exon12:c.C928A:p.Q310K,MUTYH:NM_001128425:exon12:c.C1012A:p.Q338K,MUTYH:NM_001293190:exon12:c.C973A:p.Q325K,MUTYH:NM_001293191:exon12:c.C961A:p.Q321K,MUTYH:NM_001293192:exon12:c.C652A:p.Q218K,MUTYH:NM_001293196:exon12:c.C652A:p.Q218K,MUTYH:NM_012222:exon12:c.C1003A:p.Q335K,MUTYH:NM_001293195:exon13:c.C928A:p.Q310K | 1p34.1 | . | . | 0.928 | T | 0.029 | B | 0.029 | B | 0.038 | N | 1.000 | N | 2.125 | M | 3.34 | T | -0.48 | N | 0.178 | -0.486 | 0.238 | 0.622 | 0.180 | N | -0.958 | T | 0.043 | T | 0.732 | 0 | 4.73 | 0.917 | 1.048 | 0.105 | 0.520 | 3.561 | Tolerated |
| 47 | 1 | 45332163 | A | C | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332163 | 45332163 | A | C | intronic | MUTYH | . | . | . | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 48 | 1 | 45332215 | C | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332215 | 45332215 | C | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon10:c.C842A:p.P281Q,MUTYH:NM_001048172:exon10:c.C803A:p.P268Q,MUTYH:NM_001048173:exon10:c.C800A:p.P267Q,MUTYH:NM_001048174:exon10:c.C800A:p.P267Q,MUTYH:NM_001128425:exon10:c.C884A:p.P295Q,MUTYH:NM_001293190:exon10:c.C845A:p.P282Q,MUTYH:NM_001293191:exon10:c.C833A:p.P278Q,MUTYH:NM_001293192:exon10:c.C524A:p.P175Q,MUTYH:NM_001293196:exon10:c.C524A:p.P175Q,MUTYH:NM_012222:exon10:c.C875A:p.P292Q,MUTYH:NM_001293195:exon11:c.C800A:p.P267Q | 1p34.1 | . | . | 0.001 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | D | 4.435 | H | -4.21 | D | -7.41 | D | 0.871 | 5.541 | 26.4 | 0.993 | 0.995 | D | 1.029 | D | 0.982 | D | 0.732 | 0 | 5.51 | 0.917 | 0.953 | 0.502 | 0.934 | 19.419 | Deleterious |
| 49 | 1 | 45332242 | G | A | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332242 | 45332242 | G | A | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon10:c.G815T:p.G272V,MUTYH:NM_001048172:exon10:c.G776T:p.G259V,MUTYH:NM_001048173:exon10:c.G773T:p.G258V,MUTYH:NM_001048174:exon10:c.G773T:p.G258V,MUTYH:NM_001128425:exon10:c.G857T:p.G286V,MUTYH:NM_001293190:exon10:c.G818T:p.G273V,MUTYH:NM_001293191:exon10:c.G806T:p.G269V,MUTYH:NM_001293192:exon10:c.G497T:p.G166V,MUTYH:NM_001293196:exon10:c.G497T:p.G166V,MUTYH:NM_012222:exon10:c.G848T:p.G283V,MUTYH:NM_001293195:exon11:c.G773T:p.G258V | 1p34.1 | . | rs730881833 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.455 | H | -4.31 | D | -8.51 | D | 0.996 | 6.536 | 31 | 0.998 | 0.991 | D | 0.988 | D | 0.988 | D | 0.732 | 0 | 5.51 | 0.871 | 0.852 | 0.981 | 0.993 | 19.419 | Deleterious |
| 50 | 1 | 45332300 | C | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332300 | 45332300 | C | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon10:c.C757A:p.Q253K,MUTYH:NM_001048172:exon10:c.C718A:p.Q240K,MUTYH:NM_001048173:exon10:c.C715A:p.Q239K,MUTYH:NM_001048174:exon10:c.C715A:p.Q239K,MUTYH:NM_001128425:exon10:c.C799A:p.Q267K,MUTYH:NM_001293190:exon10:c.C760A:p.Q254K,MUTYH:NM_001293191:exon10:c.C748A:p.Q250K,MUTYH:NM_001293192:exon10:c.C439A:p.Q147K,MUTYH:NM_001293196:exon10:c.C439A:p.Q147K,MUTYH:NM_012222:exon10:c.C790A:p.Q264K,MUTYH:NM_001293195:exon11:c.C715A:p.Q239K | 1p34.1 | . | . | 0.88 | T | 0.102 | B | 0.034 | B | 0.000 | D | 1 | D | 0.455 | N | -2.97 | D | -0.92 | N | 0.369 | 0.484 | 7.305 | 0.816 | 0.841 | D | -0.127 | T | 0.541 | D | 0.732 | 0 | 5.64 | 0.917 | 0.949 | 0.988 | 0.939 | 12.749 | Deleterious |
| 51 | 1 | 45332440 | C | T | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332440 | 45332440 | C | T | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon9:c.C697A:p.R233R,MUTYH:NM_001048172:exon9:c.C658A:p.R220R,MUTYH:NM_001048173:exon9:c.C655A:p.R219R,MUTYH:NM_001048174:exon9:c.C655A:p.R219R,MUTYH:NM_001128425:exon9:c.C739A:p.R247R,MUTYH:NM_001293190:exon9:c.C700A:p.R234R,MUTYH:NM_001293191:exon9:c.C688A:p.R230R,MUTYH:NM_001293192:exon9:c.C379A:p.R127R,MUTYH:NM_001293196:exon9:c.C379A:p.R127R,MUTYH:NM_012222:exon9:c.C730A:p.R244R,MUTYH:NM_001293195:exon10:c.C655A:p.R219R | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 52 | 1 | 45332445 | G | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332445 | 45332445 | G | A | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon9:c.G692T:p.R231L,MUTYH:NM_001048172:exon9:c.G653T:p.R218L,MUTYH:NM_001048173:exon9:c.G650T:p.R217L,MUTYH:NM_001048174:exon9:c.G650T:p.R217L,MUTYH:NM_001128425:exon9:c.G734T:p.R245L,MUTYH:NM_001293190:exon9:c.G695T:p.R232L,MUTYH:NM_001293191:exon9:c.G683T:p.R228L,MUTYH:NM_001293192:exon9:c.G374T:p.R125L,MUTYH:NM_001293196:exon9:c.G374T:p.R125L,MUTYH:NM_012222:exon9:c.G725T:p.R242L,MUTYH:NM_001293195:exon10:c.G650T:p.R217L | 1p34.1 | . | . | 0.0 | D | 0.998 | D | 0.968 | D | 0.000 | D | 1 | D | 4.5 | H | -2.55 | D | -6.58 | D | 0.997 | 7.102 | 33 | 0.998 | 0.997 | D | 1.090 | D | 0.962 | D | 0.719 | 0 | 5.6 | 0.871 | 0.925 | 0.991 | 1.000 | 19.214 | Deleterious |
| 53 | 1 | 45332446 | C | T | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332446 | 45332446 | C | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon9:c.C691A:p.R231S,MUTYH:NM_001048172:exon9:c.C652A:p.R218S,MUTYH:NM_001048173:exon9:c.C649A:p.R217S,MUTYH:NM_001048174:exon9:c.C649A:p.R217S,MUTYH:NM_001128425:exon9:c.C733A:p.R245S,MUTYH:NM_001293190:exon9:c.C694A:p.R232S,MUTYH:NM_001293191:exon9:c.C682A:p.R228S,MUTYH:NM_001293192:exon9:c.C373A:p.R125S,MUTYH:NM_001293196:exon9:c.C373A:p.R125S,MUTYH:NM_012222:exon9:c.C724A:p.R242S,MUTYH:NM_001293195:exon10:c.C649A:p.R217S | 1p34.1 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.5 | H | -2.53 | D | -5.64 | D | 0.997 | 5.697 | 26.8 | 0.997 | 0.978 | D | 1.082 | D | 0.958 | D | 0.719 | 0 | 4.69 | 0.917 | 1.036 | 0.993 | 1.000 | 14.184 | Deleterious |
| 54 | 1 | 45332458 | C | T | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332458 | 45332458 | C | T | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon9:c.C679A:p.R227R,MUTYH:NM_001048172:exon9:c.C640A:p.R214R,MUTYH:NM_001048173:exon9:c.C637A:p.R213R,MUTYH:NM_001048174:exon9:c.C637A:p.R213R,MUTYH:NM_001128425:exon9:c.C721A:p.R241R,MUTYH:NM_001293190:exon9:c.C682A:p.R228R,MUTYH:NM_001293191:exon9:c.C670A:p.R224R,MUTYH:NM_001293192:exon9:c.C361A:p.R121R,MUTYH:NM_001293196:exon9:c.C361A:p.R121R,MUTYH:NM_012222:exon9:c.C712A:p.R238R,MUTYH:NM_001293195:exon10:c.C637A:p.R213R | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 55 | 1 | 45332794 | G | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332794 | 45332794 | G | A | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon7:c.G503T:p.R168L,MUTYH:NM_001048172:exon7:c.G464T:p.R155L,MUTYH:NM_001048173:exon7:c.G461T:p.R154L,MUTYH:NM_001048174:exon7:c.G461T:p.R154L,MUTYH:NM_001128425:exon7:c.G545T:p.R182L,MUTYH:NM_001293190:exon7:c.G506T:p.R169L,MUTYH:NM_001293191:exon7:c.G494T:p.R165L,MUTYH:NM_001293192:exon7:c.G185T:p.R62L,MUTYH:NM_001293196:exon7:c.G185T:p.R62L,MUTYH:NM_012222:exon7:c.G536T:p.R179L,MUTYH:NM_001293195:exon8:c.G461T:p.R154L | 1p34.1 | 7.7e-05 | rs143353451 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.515 | H | -2.63 | D | -6.47 | D | 0.981 | 7.089 | 33 | 0.999 | 0.998 | D | 1.100 | D | 0.924 | D | 0.707 | 0 | 4.99 | 0.871 | 0.927 | 0.994 | 0.995 | 18.636 | Deleterious |
| 56 | 1 | 45332795 | C | T | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332795 | 45332795 | C | T | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon7:c.C502A:p.R168S,MUTYH:NM_001048172:exon7:c.C463A:p.R155S,MUTYH:NM_001048173:exon7:c.C460A:p.R154S,MUTYH:NM_001048174:exon7:c.C460A:p.R154S,MUTYH:NM_001128425:exon7:c.C544A:p.R182S,MUTYH:NM_001293190:exon7:c.C505A:p.R169S,MUTYH:NM_001293191:exon7:c.C493A:p.R165S,MUTYH:NM_001293192:exon7:c.C184A:p.R62S,MUTYH:NM_001293196:exon7:c.C184A:p.R62S,MUTYH:NM_012222:exon7:c.C535A:p.R179S,MUTYH:NM_001293195:exon8:c.C460A:p.R154S | 1p34.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.515 | H | -2.65 | D | -5.55 | D | 0.987 | 5.361 | 25.9 | 0.993 | 0.902 | D | 0.613 | D | 0.650 | D | 0.707 | 0 | 2.93 | 0.917 | 1.048 | 0.996 | 0.997 | 13.604 | Deleterious |
| 57 | 1 | 45332803 | A | G | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332803 | 45332803 | A | G | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon7:c.A494C:p.Y165S,MUTYH:NM_001048172:exon7:c.A455C:p.Y152S,MUTYH:NM_001048173:exon7:c.A452C:p.Y151S,MUTYH:NM_001048174:exon7:c.A452C:p.Y151S,MUTYH:NM_001128425:exon7:c.A536C:p.Y179S,MUTYH:NM_001293190:exon7:c.A497C:p.Y166S,MUTYH:NM_001293191:exon7:c.A485C:p.Y162S,MUTYH:NM_001293192:exon7:c.A176C:p.Y59S,MUTYH:NM_001293196:exon7:c.A176C:p.Y59S,MUTYH:NM_012222:exon7:c.A527C:p.Y176S,MUTYH:NM_001293195:exon8:c.A452C:p.Y151S | 1p34.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.505 | H | -2.16 | D | -8.62 | D | 0.979 | 5.385 | 26.0 | 0.992 | 0.995 | D | 1.048 | D | 0.884 | D | 0.707 | 0 | 5.01 | 0.991 | 1.061 | 1.000 | 1.000 | 15.014 | Deleterious |
| 58 | 1 | 45332955 | G | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45332955 | 45332955 | G | A | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon6:c.G425T:p.W142L,MUTYH:NM_001048172:exon6:c.G386T:p.W129L,MUTYH:NM_001048173:exon6:c.G383T:p.W128L,MUTYH:NM_001048174:exon6:c.G383T:p.W128L,MUTYH:NM_001128425:exon6:c.G467T:p.W156L,MUTYH:NM_001293190:exon6:c.G428T:p.W143L,MUTYH:NM_001293191:exon6:c.G416T:p.W139L,MUTYH:NM_001293192:exon6:c.G107T:p.W36L,MUTYH:NM_001293196:exon6:c.G107T:p.W36L,MUTYH:NM_012222:exon6:c.G458T:p.W153L,MUTYH:NM_001293195:exon7:c.G383T:p.W128L | 1p34.1 | . | . | 0.099 | T | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 1.72 | L | -2.02 | D | -11.46 | D | 0.822 | 6.571 | 31 | 0.986 | 0.996 | D | 0.536 | D | 0.714 | D | 0.707 | 0 | 5.02 | 0.871 | 0.935 | 0.993 | 0.997 | 18.692 | Deleterious |
| 59 | 1 | 45333168 | T | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45333168 | 45333168 | T | A | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon5:c.T349T:p.W117W,MUTYH:NM_001048172:exon5:c.T310T:p.W104W,MUTYH:NM_001048173:exon5:c.T307T:p.W103W,MUTYH:NM_001048174:exon5:c.T307T:p.W103W,MUTYH:NM_001128425:exon5:c.T391T:p.W131W,MUTYH:NM_001293190:exon5:c.T352T:p.W118W,MUTYH:NM_001293191:exon5:c.T340T:p.W114W,MUTYH:NM_001293192:exon5:c.T31T:p.W11W,MUTYH:NM_001293196:exon5:c.T31T:p.W11W,MUTYH:NM_012222:exon5:c.T382T:p.W128W,MUTYH:NM_001293195:exon6:c.T307T:p.W103W | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 60 | 1 | 45333171 | G | C | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45333171 | 45333171 | G | C | splicing | MUTYH | NM_001048173:exon5:c.305-1C>G,NM_001048172:exon5:c.308-1C>G,NM_001048171:exon5:c.347-1C>G,NM_012222:exon5:c.380-1C>G,NM_001293190:exon5:c.350-1C>G,NM_001293196:exon5:c.29-1C>G,NM_001293195:exon6:c.305-1C>G,NM_001293192:exon5:c.29-1C>G,NM_001293191:exon5:c.338-1C>G,NM_001048174:exon5:c.305-1C>G,NM_001128425:exon5:c.389-1C>G | . | . | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 61 | 1 | 45333436 | C | T | Pathogenic/Likely pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45333436 | 45333436 | C | T | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon3:c.C283A:p.R95R,MUTYH:NM_001048172:exon3:c.C244A:p.R82R,MUTYH:NM_001048173:exon3:c.C241A:p.R81R,MUTYH:NM_001048174:exon3:c.C241A:p.R81R,MUTYH:NM_001128425:exon3:c.C325A:p.R109R,MUTYH:NM_001293190:exon3:c.C286A:p.R96R,MUTYH:NM_001293191:exon3:c.C274A:p.R92R,MUTYH:NM_012222:exon3:c.C316A:p.R106R,MUTYH:NM_001293195:exon4:c.C241A:p.R81R | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 62 | 1 | 45333449 | C | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45333449 | 45333449 | C | A | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon3:c.C270T:p.Y90Y,MUTYH:NM_001048172:exon3:c.C231T:p.Y77Y,MUTYH:NM_001048173:exon3:c.C228T:p.Y76Y,MUTYH:NM_001048174:exon3:c.C228T:p.Y76Y,MUTYH:NM_001128425:exon3:c.C312T:p.Y104Y,MUTYH:NM_001293190:exon3:c.C273T:p.Y91Y,MUTYH:NM_001293191:exon3:c.C261T:p.Y87Y,MUTYH:NM_012222:exon3:c.C303T:p.Y101Y,MUTYH:NM_001293195:exon4:c.C228T:p.Y76Y | 1p34.1 | 0.0018 | rs121908380 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 63 | 1 | 45333452 | G | A | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45333452 | 45333452 | G | A | exonic | MUTYH | . | nonsynonymous SNV | MUTYH:NM_001048171:exon3:c.G267T:p.W89C,MUTYH:NM_001048172:exon3:c.G228T:p.W76C,MUTYH:NM_001048173:exon3:c.G225T:p.W75C,MUTYH:NM_001048174:exon3:c.G225T:p.W75C,MUTYH:NM_001128425:exon3:c.G309T:p.W103C,MUTYH:NM_001293190:exon3:c.G270T:p.W90C,MUTYH:NM_001293191:exon3:c.G258T:p.W86C,MUTYH:NM_012222:exon3:c.G300T:p.W100C,MUTYH:NM_001293195:exon4:c.G225T:p.W75C | 1p34.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.77 | H | -1.03 | T | -11.72 | D | 0.964 | 6.039 | 28.0 | 0.991 | 0.997 | D | 1.067 | D | 0.936 | D | 0.732 | 0 | 5.86 | 0.871 | 0.935 | 0.981 | 0.870 | 20.177 | Deleterious |
| 64 | 1 | 45333472 | C | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45333472 | 45333472 | C | T | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon3:c.C247A:p.R83R,MUTYH:NM_001048172:exon3:c.C208A:p.R70R,MUTYH:NM_001048173:exon3:c.C205A:p.R69R,MUTYH:NM_001048174:exon3:c.C205A:p.R69R,MUTYH:NM_001128425:exon3:c.C289A:p.R97R,MUTYH:NM_001293190:exon3:c.C250A:p.R84R,MUTYH:NM_001293191:exon3:c.C238A:p.R80R,MUTYH:NM_012222:exon3:c.C280A:p.R94R,MUTYH:NM_001293195:exon4:c.C205A:p.R69R | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 65 | 1 | 45334493 | C | T | Pathogenic | MUTYH | . | . | . | . | . | . | . | . | . | . | 1 | 45334493 | 45334493 | C | T | exonic | MUTYH | . | synonymous SNV | MUTYH:NM_001048171:exon2:c.C55A:p.R19R,MUTYH:NM_001048172:exon2:c.C13A:p.R5R,MUTYH:NM_001048173:exon2:c.C13A:p.R5R,MUTYH:NM_001048174:exon2:c.C13A:p.R5R,MUTYH:NM_001128425:exon2:c.C55A:p.R19R,MUTYH:NM_001293190:exon2:c.C55A:p.R19R,MUTYH:NM_001293191:exon2:c.C13A:p.R5R,MUTYH:NM_012222:exon2:c.C55A:p.R19R,MUTYH:NM_001293195:exon3:c.C13A:p.R5R | 1p34.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 66 | 1 | 45508329 | C | T | Pathogenic | MMACHC | . | . | . | . | . | . | . | . | . | . | 1 | 45508329 | 45508329 | C | T | exonic | MMACHC | . | stopgain | MMACHC:NM_015506:exon3:c.C394T:p.R132X | 1p34.1 | 8.3e-05 | rs121918241 | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 12.841 | 40 | 0.998 | 0.759 | D | . | . | . | . | 0.632 | 0 | 5.8 | 0.871 | 0.064 | 0.999 | 0.997 | 14.494 | Deleterious (FATHMM) |
| 67 | 1 | 45508806 | G | C | Pathogenic/Likely pathogenic | MMACHC | . | . | . | . | . | . | . | . | . | . | 1 | 45508806 | 45508806 | G | C | exonic | MMACHC | . | nonsynonymous SNV | MMACHC:NM_015506:exon4:c.G440C:p.G147A | 1p34.1 | 0.0003 | rs140522266 | 0.017 | D | 0.962 | D | 0.49 | P | 0.000 | D | 1 | D | 2.79 | M | -4.33 | D | -5.22 | D | 0.978 | 5.854 | 27.3 | 0.995 | 0.987 | D | 1.040 | D | 0.915 | D | 0.632 | 0 | 5.57 | 0.917 | 1.048 | 1.000 | 0.998 | 19.148 | Deleterious |
| 68 | 1 | 45508847 | C | T | Pathogenic | MMACHC | . | . | . | . | . | . | . | . | . | . | 1 | 45508847 | 45508847 | C | T | exonic | MMACHC | . | stopgain | MMACHC:NM_015506:exon4:c.C481T:p.R161X | 1p34.1 | 8.1e-05 | rs370596113 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 11.973 | 38 | 0.997 | 0.914 | D | . | . | . | . | 0.632 | 0 | 3.79 | -0.048 | 0.036 | 0.990 | 0.996 | 14.594 | Deleterious (FATHMM) |
| 69 | 1 | 45508848 | G | A | Pathogenic | MMACHC | . | . | . | . | . | . | . | . | . | . | 1 | 45508848 | 45508848 | G | A | exonic | MMACHC | . | nonsynonymous SNV | MMACHC:NM_015506:exon4:c.G482A:p.R161Q | 1p34.1 | 8.1e-05 | rs121918243 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 2.83 | M | -4.57 | D | -3.73 | D | 0.983 | 7.500 | 34 | 1.000 | 0.983 | D | 1.101 | D | 0.963 | D | 0.632 | 0 | 5.71 | 0.917 | 1.048 | 0.992 | 0.997 | 19.448 | Deleterious |
| 70 | 1 | 46192097 | G | A | Pathogenic/Likely pathogenic | TSPAN1|POMGNT1 | . | . | . | . | . | . | . | . | . | . | 1 | 46192097 | 46192097 | G | A | splicing | POMGNT1 | NM_017739:exon17:c.1539+1C>T,NM_001243766:exon17:c.1539+1C>T,NM_001290130:exon16:c.1110+1C>T,NM_001290129:exon16:c.1473+1C>T | . | . | 1p34.1 | . | rs138642840 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.141 | 28.4 | 0.995 | 0.973 | D | . | . | . | . | 0.295 | 0 | 6.07 | 0.871 | 0.855 | 0.947 | 0.879 | 20.644 | Deleterious (FATHMM) |
| 71 | 1 | 46192397 | C | T | Pathogenic | TSPAN1|POMGNT1 | . | . | . | . | . | . | . | . | . | . | 1 | 46192397 | 46192397 | C | T | exonic | POMGNT1 | . | nonsynonymous SNV | POMGNT1:NM_001290129:exon15:c.C1258A:p.R420S,POMGNT1:NM_001290130:exon15:c.C895A:p.R299S,POMGNT1:NM_001243766:exon16:c.C1324A:p.R442S,POMGNT1:NM_017739:exon16:c.C1324A:p.R442S | 1p34.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.54 | H | -2.39 | D | -5.56 | D | 0.995 | 6.801 | 32 | 0.998 | 0.913 | D | 0.948 | D | 0.868 | D | 0.707 | 0 | 5.74 | 0.917 | 1.048 | 1.000 | 1.000 | 14.729 | Deleterious |
| 72 | 1 | 53202427 | C | T | Pathogenic | CPT2 | . | . | . | . | . | . | . | . | . | . | 1 | 53202427 | 53202427 | C | T | exonic | CPT2 | . | nonsynonymous SNV | CPT2:NM_000098:exon3:c.C338T:p.S113L | 1p32.3 | 0.0014 | rs74315294 | 0.001 | D | 0.999 | D | 0.981 | D | 0.000 | D | 1 | A | 3.52 | H | -2.71 | D | -4.89 | D | 0.935 | 7.538 | 34 | 0.999 | 0.990 | D | 0.984 | D | 0.898 | D | 0.732 | 0 | 5.88 | 0.871 | 0.935 | 0.993 | 0.891 | 19.851 | Deleterious |
| 73 | 1 | 53210560 | C | T | Pathogenic/Likely pathogenic | CPT2 | . | . | . | . | . | . | . | . | . | . | 1 | 53210560 | 53210560 | C | T | exonic | CPT2 | . | stopgain | CPT2:NM_000098:exon4:c.C886T:p.R296X | 1p32.3 | . | rs727503887 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.323 | 37 | 0.998 | 0.965 | D | . | . | . | . | 0.732 | 0 | 4.49 | 0.871 | 0.852 | 1.000 | 0.992 | 13.190 | Deleterious (FATHMM) |
| 74 | 1 | 63402348 | G | A | Pathogenic | ALG6 | . | . | . | . | . | . | . | . | . | . | 1 | 63402348 | 63402348 | G | A | intronic | ALG6 | . | . | . | 1p31.3 | 0.0008 | rs199682486 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 75 | 1 | 75732682 | C | T | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75732682 | 75732682 | C | T | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286042:exon2:c.C49T:p.R17C,ACADM:NM_000016:exon3:c.C157T:p.R53C,ACADM:NM_001127328:exon3:c.C169T:p.R57C,ACADM:NM_001286043:exon3:c.C157T:p.R53C | 1p31.1 | . | rs398123072 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | N | 1 | D | 4.37 | H | -7.05 | D | -6.67 | D | 0.801 | 5.747 | 26.9 | 0.999 | 0.934 | D | 0.903 | D | 0.996 | D | 0.732 | 0 | 4.86 | 0.871 | 0.852 | 0.822 | 0.998 | 14.224 | Deleterious |
| 76 | 1 | 75732724 | T | C | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75732724 | 75732724 | T | C | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286042:exon2:c.T91C:p.Y31H,ACADM:NM_000016:exon3:c.T199C:p.Y67H,ACADM:NM_001127328:exon3:c.T211C:p.Y71H,ACADM:NM_001286043:exon3:c.T199C:p.Y67H | 1p31.1 | 0.0008 | rs121434280 | 0.291 | T | 0.078 | B | 0.168 | B | 0.000 | N | 1 | A | 0.6 | N | -6.47 | D | -2.43 | N | 0.424 | 2.685 | 20.7 | 0.988 | 0.988 | D | 0.880 | D | 0.914 | D | 0.732 | 0 | 4.45 | 0.991 | 0.964 | 0.084 | 1.000 | 10.942 | Deleterious |
| 77 | 1 | 75732869 | T | C | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75732869 | 75732869 | T | C | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286042:exon3:c.T125C:p.I42T,ACADM:NM_000016:exon4:c.T233C:p.I78T,ACADM:NM_001127328:exon4:c.T245C:p.I82T,ACADM:NM_001286043:exon4:c.T233C:p.I78T | 1p31.1 | . | rs398123074 | 0.002 | D | 0.979 | D | 0.987 | D | 0.000 | D | 1 | D | 2.83 | M | -6.55 | D | -3.38 | D | 0.967 | 6.019 | 27.9 | 0.997 | 0.988 | D | 0.999 | D | 0.988 | D | 0.732 | 0 | 5.28 | 0.991 | 0.913 | 0.640 | 0.942 | 14.867 | Deleterious |
| 78 | 1 | 75733603 | C | T | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75733603 | 75733603 | C | T | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286042:exon4:c.C254T:p.T85I,ACADM:NM_000016:exon5:c.C362T:p.T121I,ACADM:NM_001127328:exon5:c.C374T:p.T125I,ACADM:NM_001286043:exon6:c.C461T:p.T154I | 1p31.1 | . | rs121434283 | 0.018 | D | 0.849 | P | 0.899 | P | 0.000 | D | 1 | A | 2.045 | M | -6.43 | D | -4.32 | D | 0.981 | 6.541 | 31 | 0.999 | 0.993 | D | 1.070 | D | 0.985 | D | 0.732 | 0 | 5.69 | 0.871 | 0.807 | 0.995 | 0.997 | 19.423 | Deleterious |
| 79 | 1 | 75740094 | G | A | Pathogenic/Likely pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75740094 | 75740094 | G | A | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286044:exon4:c.G16A:p.G6R,ACADM:NM_001286042:exon6:c.G475A:p.G159R,ACADM:NM_000016:exon7:c.G583A:p.G195R,ACADM:NM_001127328:exon7:c.G595A:p.G199R,ACADM:NM_001286043:exon8:c.G682A:p.G228R | 1p31.1 | 0.0002 | rs121434278 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | A | 3.985 | H | -4.15 | D | -6.8 | D | 0.995 | 7.368 | 34 | 0.999 | 0.989 | D | 1.018 | D | 0.987 | D | 0.732 | 0 | 5.46 | 0.917 | 1.048 | 0.997 | 0.990 | 18.922 | Deleterious |
| 80 | 1 | 75745788 | G | A | Pathogenic/Likely pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75745788 | 75745788 | G | A | intronic | ACADM | . | . | . | 1p31.1 | 0.0002 | rs370523609 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 81 | 1 | 75749507 | A | G | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75749507 | 75749507 | A | G | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286044:exon6:c.A230G:p.D77G,ACADM:NM_001286042:exon8:c.A689G:p.D230G,ACADM:NM_000016:exon9:c.A797G:p.D266G,ACADM:NM_001127328:exon9:c.A809G:p.D270G,ACADM:NM_001286043:exon10:c.A896G:p.D299G | 1p31.1 | 7.7e-05 | rs201375579 | 0.023 | D | 0.004 | B | 0.01 | B | 0.000 | D | 1.000 | D | 0.55 | N | -5.18 | D | -3.14 | D | 0.745 | 4.663 | 24.5 | 0.997 | 0.988 | D | 0.565 | D | 0.823 | D | 0.732 | 0 | 5.73 | 1.062 | 1.199 | 0.995 | 0.991 | 15.690 | Deleterious |
| 82 | 1 | 75749509 | G | A | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75749509 | 75749509 | G | A | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286044:exon6:c.G232A:p.G78R,ACADM:NM_001286042:exon8:c.G691A:p.G231R,ACADM:NM_000016:exon9:c.G799A:p.G267R,ACADM:NM_001127328:exon9:c.G811A:p.G271R,ACADM:NM_001286043:exon10:c.G898A:p.G300R | 1p31.1 | 7.7e-05 | rs121434274 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.3 | M | -4.4 | D | -7.67 | D | 0.974 | 7.390 | 34 | 0.999 | 0.989 | D | 1.098 | D | 0.963 | D | 0.732 | 0 | 5.73 | 0.917 | 1.048 | 0.995 | 0.991 | 19.508 | Deleterious |
| 83 | 1 | 75761161 | A | G | Pathogenic | ACADM | . | . | . | . | . | . | . | . | . | . | 1 | 75761161 | 75761161 | A | G | exonic | ACADM | . | nonsynonymous SNV | ACADM:NM_001286044:exon8:c.A418G:p.K140E,ACADM:NM_001286042:exon10:c.A877G:p.K293E,ACADM:NM_000016:exon11:c.A985G:p.K329E,ACADM:NM_001127328:exon11:c.A997G:p.K333E,ACADM:NM_001286043:exon12:c.A1084G:p.K362E | 1p31.1 | 0.0054 | rs77931234 | 0.208 | T | 0.831 | P | 0.324 | B | 0.000 | D | 1 | D | -0.21 | N | -3.7 | D | -0.68 | N | 0.957 | 2.975 | 22.1 | 0.996 | 0.980 | D | 0.161 | D | 0.518 | D | 0.732 | 0 | 5.21 | 1.062 | 1.140 | 0.999 | 1.000 | 14.213 | Deleterious |
| 84 | 1 | 94001911 | C | T | Pathogenic/Likely pathogenic, not provided | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94001911 | 94001911 | C | T | exonic | ABCA4 | . | synonymous SNV | ABCA4:NM_000350:exon45:c.C6229A:p.R2077R | 1p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 85 | 1 | 94005499 | G | A | Pathogenic/Likely pathogenic, not provided | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94005499 | 94005499 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon44:c.G6089T:p.R2030L | 1p22.1 | . | . | 0.002 | D | 0.995 | D | 0.987 | D | 0.000 | D | 1.000 | D | 1.755 | L | -3.39 | D | -5.48 | D | 0.953 | 7.613 | 34 | 0.999 | 0.982 | D | 0.858 | D | 0.826 | D | 0.625 | 0 | 5.02 | 0.871 | 0.935 | 0.952 | 0.995 | 14.99 | Deleterious |
| 86 | 1 | 94005509 | C | T | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94005509 | 94005509 | C | T | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon44:c.C6079A:p.L2027I | 1p22.1 | . | . | 0.003 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 1.975 | M | -4.22 | D | -1.84 | N | 0.786 | 6.395 | 29.6 | 0.996 | 0.988 | D | 1.070 | D | 0.938 | D | 0.549 | 0 | 5.93 | 0.917 | 1.048 | 0.998 | 1.000 | 20.341 | Deleterious |
| 87 | 1 | 94008251 | G | A | Pathogenic/Likely pathogenic, not provided, risk factor | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94008251 | 94008251 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon42:c.G5882T:p.G1961V | 1p22.1 | . | . | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | D | 0.565 | N | -3.32 | D | -7.59 | D | 0.97 | 7.006 | 33 | 0.997 | 0.991 | D | 0.751 | D | 0.787 | D | 0.549 | 0 | 5.35 | 0.871 | 0.935 | 0.970 | 0.895 | 19.614 | Deleterious |
| 88 | 1 | 94010795 | G | A | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94010795 | 94010795 | G | A | intronic | ABCA4 | . | . | . | 1p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 89 | 1 | 94019581 | G | A | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94019581 | 94019581 | G | A | splicing | ABCA4 | NM_000350:exon36:c.5196+1C>T | . | . | 1p22.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.870 | 24.9 | 0.991 | 0.983 | D | . | . | . | . | 0.081 | 0 | 5.38 | 0.871 | 0.935 | 0.959 | 0.455 | 19.324 | Deleterious (FATHMM) |
| 90 | 1 | 94021339 | G | A | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94021339 | 94021339 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon35:c.G4919T:p.R1640L | 1p22.1 | . | . | 0.001 | D | 1.0 | D | 0.994 | D | 0.298 | N | 1.000 | D | 3.375 | M | -2.33 | D | -6.18 | D | 0.991 | 7.961 | 35 | 0.999 | 0.901 | D | 0.307 | D | 0.863 | D | 0.497 | 0 | 5.42 | 0.871 | 0.932 | 0.973 | 0.992 | 19.408 | Deleterious |
| 91 | 1 | 94024994 | G | A | Pathogenic/Likely pathogenic, not provided | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94024994 | 94024994 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon31:c.G4594T:p.D1532Y | 1p22.1 | . | . | 0.001 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 2.645 | M | -3.94 | D | -7.63 | D | 0.982 | 7.576 | 34 | 0.995 | 0.981 | D | 1.051 | D | 0.926 | D | 0.554 | 0 | 5.09 | 0.871 | 0.852 | 0.998 | 0.994 | 18.688 | Deleterious |
| 92 | 1 | 94029515 | G | A | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94029515 | 94029515 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon30:c.G4469T:p.C1490F | 1p22.1 | . | . | 0.0 | D | 0.777 | P | 0.569 | P | 0.000 | D | 1 | D | 2.725 | M | -4.52 | D | -9.85 | D | 0.983 | 7.201 | 34 | 0.992 | 0.991 | D | 1.096 | D | 0.934 | D | 0.615 | 0 | 5.24 | 0.871 | 0.935 | 0.998 | 0.996 | 19.086 | Deleterious |
| 93 | 1 | 94029522 | T | C | Pathogenic/Likely pathogenic, not provided | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94029522 | 94029522 | T | C | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon30:c.T4462G:p.C1488G | 1p22.1 | . | . | 0.003 | D | 0.997 | D | 0.93 | D | 0.000 | D | 1 | D | 2.725 | M | -4.49 | D | -10.57 | D | 0.971 | 5.459 | 26.1 | 0.987 | 0.993 | D | 1.099 | D | 0.950 | D | 0.615 | 0 | 5.24 | 1.062 | 1.199 | 0.944 | 0.941 | 15.361 | Deleterious |
| 94 | 1 | 94031110 | C | T | Pathogenic, not provided, risk factor | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94031110 | 94031110 | C | T | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon28:c.C4139A:p.P1380Q | 1p22.1 | . | . | 0.001 | D | 0.998 | D | 0.967 | D | 0.005 | N | 1.000 | D | 2.975 | M | -5.22 | D | -7.05 | D | 0.961 | 5.786 | 27.1 | 0.991 | 0.979 | D | 1.094 | D | 0.972 | D | 0.554 | 0 | 5.0 | 0.917 | 1.048 | 0.987 | 0.036 | 16.658 | Deleterious |
| 95 | 1 | 94042767 | C | T | Pathogenic/Likely pathogenic, not provided | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94042767 | 94042767 | C | T | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon22:c.C3322A:p.R1108S | 1p22.1 | . | . | 0.001 | D | 0.639 | P | 0.217 | B | 0.000 | D | 1 | D | 1.155 | L | -3.61 | D | -4.85 | D | 0.919 | 7.209 | 34 | 0.999 | 0.984 | D | 0.495 | D | 0.682 | D | 0.633 | 0 | 5.76 | 0.917 | 0.953 | 0.998 | 0.998 | 19.972 | Deleterious |
| 96 | 1 | 94043413 | C | T | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94043413 | 94043413 | C | T | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon21:c.C3113A:p.A1038D | 1p22.1 | . | . | 0.006 | D | 0.183 | B | 0.184 | B | 0.000 | D | 1 | D | 1.37 | L | -3.27 | D | -3.68 | D | 0.804 | 6.821 | 32 | 0.997 | 0.990 | D | 0.274 | D | 0.698 | D | 0.601 | 0 | 5.92 | 0.917 | 0.949 | 1.000 | 1.000 | 20.332 | Deleterious |
| 97 | 1 | 94051698 | G | C | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94051698 | 94051698 | G | C | exonic | ABCA4 | . | synonymous SNV | ABCA4:NM_000350:exon17:c.G2588G:p.G863G | 1p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 98 | 1 | 94055134 | G | A | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94055134 | 94055134 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon16:c.G2564T:p.W855L | 1p22.1 | . | . | 0.003 | D | 0.995 | D | 0.928 | D | 0.000 | D | 1.000 | D | 1.805 | L | -3.63 | D | -10.77 | D | 0.887 | 5.060 | 25.2 | 0.989 | 0.981 | D | 0.928 | D | 0.870 | D | 0.554 | 0 | 5.41 | 0.871 | 0.935 | 0.996 | 0.996 | 18.792 | Deleterious |
| 99 | 1 | 94062710 | C | T | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94062710 | 94062710 | C | T | exonic | ABCA4 | . | synonymous SNV | ABCA4:NM_000350:exon13:c.C1804A:p.R602R | 1p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 100 | 1 | 94079339 | C | T | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94079339 | 94079339 | C | T | exonic | ABCA4 | . | synonymous SNV | ABCA4:NM_000350:exon9:c.C1222A:p.R408R | 1p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 101 | 1 | 94098794 | G | T | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94098794 | 94098794 | G | T | exonic | ABCA4 | . | synonymous SNV | ABCA4:NM_000350:exon6:c.G768A:p.V256V | 1p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 102 | 1 | 94098928 | C | T | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94098928 | 94098928 | C | T | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon6:c.C634A:p.R212S | 1p22.1 | . | . | 0.284 | T | 0.994 | D | 0.875 | P | 0.000 | D | 0.999 | D | 2.395 | M | -2.72 | D | -2.3 | N | 0.852 | 5.492 | 26.2 | 0.996 | 0.961 | D | 0.604 | D | 0.800 | D | 0.497 | 0 | 5.83 | 0.917 | 1.048 | 0.972 | 0.997 | 17.904 | Deleterious |
| 103 | 1 | 94111579 | G | A | Pathogenic/Likely pathogenic, not provided | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94111579 | 94111579 | G | A | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon3:c.G161T:p.C54F | 1p22.1 | . | rs150774447 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | N | 1 | D | 3.195 | M | -5.56 | D | -9.24 | D | 0.991 | 6.669 | 32 | 0.990 | 0.993 | D | 1.055 | D | 0.985 | D | 0.428 | 0 | 5.52 | 0.871 | 0.935 | 0.998 | 0.996 | 18.217 | Deleterious |
| 104 | 1 | 94113068 | A | G | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94113068 | 94113068 | A | G | splicing | ABCA4 | NM_000350:exon2:c.67-2T>C | . | . | 1p22.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.240 | 25.6 | 0.995 | 0.993 | D | . | . | . | . | 0.096 | 0 | 5.89 | 0.991 | 1.061 | 0.995 | 0.999 | 15.295 | Deleterious (FATHMM) |
| 105 | 1 | 94121045 | A | G | Pathogenic | ABCA4 | . | . | . | . | . | . | . | . | . | . | 1 | 94121045 | 94121045 | A | G | exonic | ABCA4 | . | nonsynonymous SNV | ABCA4:NM_000350:exon1:c.A1C:p.M1L | 1p22.1 | . | . | 0.0 | D | 0.962 | D | 0.867 | P | 0.000 | D | 1 | D | . | . | 0.53 | T | -2.18 | N | 0.957 | 4.998 | 25.1 | 0.967 | 0.980 | D | -0.672 | T | 0.203 | T | 0.497 | 0 | 3.76 | 0.991 | 1.061 | 0.899 | 0.281 | 10.108 | Tolerated |
| 106 | 1 | 99916398 | A | G | Pathogenic/Likely pathogenic | AGL | . | . | . | . | . | . | . | . | . | . | 1 | 99916398 | 99916398 | A | G | intronic | AGL | . | . | . | 1p21.2 | 0.0002 | rs369973784 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 107 | 1 | 100214817 | G | C | Pathogenic | DBT | . | . | . | . | . | . | . | . | . | . | 1 | 100214817 | 100214817 | G | C | exonic | DBT | . | synonymous SNV | DBT:NM_001918:exon7:c.G939G:p.K313K | 1p21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 108 | 1 | 100214855 | C | T | Pathogenic | DBT | . | . | . | . | . | . | . | . | . | . | 1 | 100214855 | 100214855 | C | T | exonic | DBT | . | nonsynonymous SNV | DBT:NM_001918:exon7:c.C901A:p.R301S | 1p21.2 | . | . | 0.066 | T | 0.658 | P | 0.459 | P | 0.000 | D | 1 | D | 0.8 | N | 0.99 | T | -2.94 | D | 0.907 | 4.221 | 23.9 | 0.998 | 0.994 | D | -1.031 | T | 0.078 | T | 0.707 | 0 | 5.44 | 0.917 | 0.953 | 0.995 | 0.997 | 19.275 | Tolerated |
| 109 | 1 | 114716126 | G | C | Pathogenic | NRAS | . | . | . | . | . | . | . | . | . | . | 1 | 114716126 | 114716126 | G | C | exonic | NRAS | . | synonymous SNV | NRAS:NM_002524:exon2:c.G35G:p.G12G | 1p13.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 110 | 1 | 114716126 | G | T | Pathogenic | NRAS | . | . | . | . | . | . | . | . | . | . | 1 | 114716126 | 114716126 | G | T | exonic | NRAS | . | nonsynonymous SNV | NRAS:NM_002524:exon2:c.G35A:p.G12D | 1p13.2 | 7.7e-05 | rs121913237 | 0.011 | D | 0.372 | B | 0.399 | B | 0.000 | U | 1 | D | 3.325 | M | -1.19 | T | -5.35 | D | 0.951 | 6.806 | 32 | 0.998 | 0.911 | D | 0.160 | D | 0.565 | D | 0.628 | 0 | 5.58 | 0.871 | 0.935 | 0.999 | 1.000 | 19.377 | Deleterious |
| 111 | 1 | 155235002 | G | A | Pathogenic | GBA | . | . | . | . | . | . | . | . | . | . | 1 | 155235002 | 155235002 | G | A | exonic | GBA | . | nonsynonymous SNV | GBA:NM_001171811:exon10:c.G1343T:p.R448L,GBA:NM_001171812:exon10:c.G1457T:p.R486L,GBA:NM_000157:exon11:c.G1604T:p.R535L,GBA:NM_001005741:exon12:c.G1604T:p.R535L,GBA:NM_001005742:exon12:c.G1604T:p.R535L | 1q22 | . | . | 0.012 | D | 0.963 | D | 0.652 | P | 0.134 | U | 0.816 | N | 0.345 | N | -3.77 | D | -2.65 | D | 0.744 | 4.662 | 24.5 | 0.986 | 0.815 | D | -0.067 | T | 0.588 | D | 0.732 | 0 | 1.17 | 0.033 | -0.077 | 0.966 | 0.952 | 5.522 | Deleterious |
| 112 | 1 | 155235196 | C | T | Pathogenic, risk factor | GBA | . | . | . | . | . | . | . | . | . | . | 1 | 155235196 | 155235196 | C | T | exonic | GBA | . | nonsynonymous SNV | GBA:NM_001171811:exon9:c.C1243A:p.R415S,GBA:NM_001171812:exon9:c.C1357A:p.R453S,GBA:NM_000157:exon10:c.C1504A:p.R502S,GBA:NM_001005741:exon11:c.C1504A:p.R502S,GBA:NM_001005742:exon11:c.C1504A:p.R502S | 1q22 | . | rs80356771 | 0.14 | T | 0.065 | B | 0.062 | B | 0.003 | N | 0.999 | D | 1.025 | L | -5.77 | D | -3.1 | D | 0.622 | 2.763 | 21.2 | 0.975 | 0.542 | D | 0.701 | D | 0.836 | D | 0.706 | 0 | 2.11 | -0.045 | 0.803 | 0.939 | 0.722 | 9.221 | Deleterious |
| 113 | 1 | 155235727 | G | C | Pathogenic | GBA | . | . | . | . | . | . | . | . | . | . | 1 | 155235727 | 155235727 | G | C | exonic | GBA | . | synonymous SNV | GBA:NM_001171811:exon8:c.G1081G:p.D361D,GBA:NM_001171812:exon8:c.G1195G:p.D399D,GBA:NM_000157:exon9:c.G1342G:p.D448D,GBA:NM_001005741:exon10:c.G1342G:p.D448D,GBA:NM_001005742:exon10:c.G1342G:p.D448D | 1q22 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 114 | 1 | 155235843 | A | G | Pathogenic, risk factor | GBA | . | . | . | . | . | . | . | . | . | . | 1 | 155235843 | 155235843 | A | G | exonic | GBA | . | nonsynonymous SNV | GBA:NM_001171811:exon8:c.A965C:p.N322T,GBA:NM_001171812:exon8:c.A1079C:p.N360T,GBA:NM_000157:exon9:c.A1226C:p.N409T,GBA:NM_001005741:exon10:c.A1226C:p.N409T,GBA:NM_001005742:exon10:c.A1226C:p.N409T | 1q22 | . | rs76763715 | 0.011 | D | 0.954 | P | 0.766 | P | 0.000 | D | 1 | D | 1.46 | L | -5.8 | D | -3.06 | D | 0.485 | 5.585 | 26.5 | 0.995 | 0.982 | D | 1.040 | D | 0.939 | D | 0.732 | 0 | 3.53 | 0.991 | 0.916 | 0.728 | 0.990 | 10.328 | Deleterious |
| 115 | 1 | 155237453 | G | A | Pathogenic | GBA | . | . | . | . | . | . | . | . | . | . | 1 | 155237453 | 155237453 | G | A | exonic | GBA | . | nonsynonymous SNV | GBA:NM_001171811:exon6:c.G626T:p.R209L,GBA:NM_001171812:exon6:c.G740T:p.R247L,GBA:NM_000157:exon7:c.G887T:p.R296L,GBA:NM_001005741:exon8:c.G887T:p.R296L,GBA:NM_001005742:exon8:c.G887T:p.R296L | 1q22 | . | . | 0.014 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1.000 | D | 2.745 | M | -6.25 | D | -6.23 | D | 0.779 | 6.904 | 33 | 0.998 | 0.971 | D | 1.056 | D | 0.982 | D | 0.706 | 0 | 3.51 | 0.871 | 0.818 | 0.997 | 0.999 | 10.668 | Deleterious |
| 116 | 1 | 155291845 | G | A | Pathogenic | PKLR | . | . | . | . | . | . | . | . | . | . | 1 | 155291845 | 155291845 | G | A | exonic | PKLR | . | nonsynonymous SNV | PKLR:NM_000298:exon10:c.G1529T:p.R510L,PKLR:NM_181871:exon10:c.G1436T:p.R479L | 1q22 | . | . | 0.0 | D | 0.978 | D | 0.85 | P | 0.000 | D | 1 | D | 2.79 | M | -5.55 | D | -6.48 | D | 0.968 | 7.920 | 35 | 0.998 | 0.987 | D | 1.090 | D | 0.969 | D | 0.624 | 0 | 4.85 | 0.871 | 0.932 | 0.985 | 1.000 | 15.860 | Deleterious |
| 117 | 1 | 155291918 | C | T | Pathogenic/Likely pathogenic | PKLR | . | . | . | . | . | . | . | . | . | . | 1 | 155291918 | 155291918 | C | T | exonic | PKLR | . | synonymous SNV | PKLR:NM_000298:exon10:c.C1456A:p.R486R,PKLR:NM_181871:exon10:c.C1363A:p.R455R | 1q22 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 118 | 1 | 155294726 | G | T | Pathogenic | PKLR | . | . | . | . | . | . | . | . | . | . | 1 | 155294726 | 155294726 | G | T | exonic | PKLR | . | nonsynonymous SNV | PKLR:NM_000298:exon6:c.G721A:p.E241K,PKLR:NM_181871:exon6:c.G628A:p.E210K | 1q22 | . | . | 0.241 | T | 0.504 | P | 0.545 | P | 0.000 | D | 1 | D | 1.845 | L | -5.78 | D | -3.19 | D | 0.371 | 3.541 | 23.1 | 0.999 | 0.972 | D | 1.048 | D | 0.926 | D | 0.652 | 0 | 3.56 | 0.871 | 0.888 | 0.196 | 0.839 | 10.622 | Deleterious |
| 119 | 1 | 155904456 | G | C | Pathogenic | RIT1 | . | . | . | . | . | . | . | . | . | . | 1 | 155904456 | 155904456 | G | C | exonic | RIT1 | . | synonymous SNV | RIT1:NM_001256820:exon4:c.G176G:p.G59G,RIT1:NM_001256821:exon5:c.G335G:p.G112G,RIT1:NM_006912:exon5:c.G284G:p.G95G | 1q22 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 120 | 1 | 155904470 | G | A | Pathogenic | RIT1 | . | . | . | . | . | . | . | . | . | . | 1 | 155904470 | 155904470 | G | A | exonic | RIT1 | . | nonsynonymous SNV | RIT1:NM_001256820:exon4:c.G162T:p.M54I,RIT1:NM_001256821:exon5:c.G321T:p.M107I,RIT1:NM_006912:exon5:c.G270T:p.M90I | 1q22 | . | . | 0.156 | T | 0.999 | D | 0.998 | D | 0.000 | D | 1 | D | -0.005 | N | -1.0 | T | -3.76 | D | 0.757 | 5.223 | 25.6 | 0.996 | 0.981 | D | -0.247 | T | 0.323 | T | 0.707 | 0 | 5.76 | 0.871 | 0.892 | 1.000 | 1.000 | 19.572 | Tolerated |
| 121 | 1 | 155904798 | C | G | Pathogenic | RIT1 | . | . | . | . | . | . | . | . | . | . | 1 | 155904798 | 155904798 | C | G | exonic | RIT1 | . | synonymous SNV | RIT1:NM_001256820:exon3:c.C62C:p.A21A,RIT1:NM_001256821:exon4:c.C221C:p.A74A,RIT1:NM_006912:exon4:c.C170C:p.A57A | 1q22 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 122 | 1 | 155910658 | G | C | Pathogenic | RIT1 | . | . | . | . | . | . | . | . | . | . | 1 | 155910658 | 155910658 | G | C | exonic | RIT1 | . | synonymous SNV | RIT1:NM_001256821:exon2:c.G155G:p.S52S,RIT1:NM_006912:exon2:c.G104G:p.S35S | 1q22 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 123 | 1 | 156114921 | G | T | Pathogenic/Likely pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156114921 | 156114921 | G | T | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001282626:exon1:c.G3T:p.M1I,LMNA:NM_005572:exon1:c.G3T:p.M1I,LMNA:NM_170707:exon1:c.G3T:p.M1I,LMNA:NM_170708:exon1:c.G3T:p.M1I,LMNA:NM_001282625:exon4:c.G3T:p.M1I | 1q22 | . | rs794728598 | 0.0 | D | 0.838 | P | 0.429 | B | 0.000 | D | 1 | D | . | . | -1.91 | D | -1.64 | N | 0.817 | 5.981 | 27.8 | 0.997 | 0.949 | D | 0.084 | D | 0.473 | T | 0.733 | 0 | 4.81 | 0.917 | 0.974 | 1.000 | 1.000 | 15.407 | Tolerated |
| 124 | 1 | 156115162 | G | A | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156115162 | 156115162 | G | A | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001282626:exon1:c.G244A:p.E82K,LMNA:NM_005572:exon1:c.G244A:p.E82K,LMNA:NM_170707:exon1:c.G244A:p.E82K,LMNA:NM_170708:exon1:c.G244A:p.E82K,LMNA:NM_001282625:exon4:c.G244A:p.E82K | 1q22 | . | rs59270054 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.18 | M | -1.78 | D | -3.65 | D | 0.966 | 7.305 | 34 | 0.999 | 0.985 | D | 0.935 | D | 0.864 | D | 0.733 | 0 | 4.77 | 0.917 | 0.974 | 1.000 | 1.000 | 15.339 | Deleterious |
| 125 | 1 | 156134457 | C | T | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134457 | 156134457 | C | T | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon3:c.C232T:p.R78W,LMNA:NM_001282626:exon3:c.C568T:p.R190W,LMNA:NM_005572:exon3:c.C568T:p.R190W,LMNA:NM_170707:exon3:c.C568T:p.R190W,LMNA:NM_170708:exon3:c.C568T:p.R190W,LMNA:NM_001282624:exon4:c.C325T:p.R109W,LMNA:NM_001282625:exon6:c.C568T:p.R190W | 1q22 | . | rs59026483 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.71 | M | -2.9 | D | -6.76 | D | 0.975 | 7.709 | 35 | 0.999 | 0.873 | D | 0.899 | D | 0.861 | D | 0.707 | 0 | 4.44 | -0.058 | 0.935 | 0.989 | 1.000 | 14.493 | Deleterious |
| 126 | 1 | 156134474 | C | G | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134474 | 156134474 | C | G | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon3:c.C249G:p.N83K,LMNA:NM_001282626:exon3:c.C585G:p.N195K,LMNA:NM_005572:exon3:c.C585G:p.N195K,LMNA:NM_170707:exon3:c.C585G:p.N195K,LMNA:NM_170708:exon3:c.C585G:p.N195K,LMNA:NM_001282624:exon4:c.C342G:p.N114K,LMNA:NM_001282625:exon6:c.C585G:p.N195K | 1q22 | . | rs28933091 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.015 | M | -1.46 | T | -5.37 | D | 0.419 | 6.382 | 29.5 | 0.999 | 0.936 | D | 0.688 | D | 0.774 | D | 0.707 | 0 | 5.44 | 0.871 | 0.935 | 1.000 | 1.000 | 16.758 | Deleterious |
| 127 | 1 | 156134496 | G | A | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134496 | 156134496 | G | A | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon3:c.G271A:p.E91K,LMNA:NM_001282626:exon3:c.G607A:p.E203K,LMNA:NM_005572:exon3:c.G607A:p.E203K,LMNA:NM_170707:exon3:c.G607A:p.E203K,LMNA:NM_170708:exon3:c.G607A:p.E203K,LMNA:NM_001282624:exon4:c.G364A:p.E122K,LMNA:NM_001282625:exon6:c.G607A:p.E203K | 1q22 | . | rs61195471 | 0.057 | T | 0.994 | D | 0.98 | D | 0.000 | D | 1 | D | 2.805 | M | -3.15 | D | -2.68 | D | 0.992 | 6.769 | 32 | 0.999 | 0.978 | D | 0.933 | D | 0.887 | D | 0.707 | 0 | 5.44 | 0.917 | 1.048 | 1.000 | 1.000 | 16.758 | Deleterious |
| 128 | 1 | 156134838 | C | T | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134838 | 156134838 | C | T | exonic | LMNA | . | stopgain | LMNA:NM_001257374:exon4:c.C337T:p.R113X,LMNA:NM_001282626:exon4:c.C673T:p.R225X,LMNA:NM_005572:exon4:c.C673T:p.R225X,LMNA:NM_170707:exon4:c.C673T:p.R225X,LMNA:NM_170708:exon4:c.C673T:p.R225X,LMNA:NM_001282624:exon5:c.C430T:p.R144X,LMNA:NM_001282625:exon7:c.C673T:p.R225X | 1q22 | . | rs60682848 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.138 | 38 | 0.997 | 0.969 | D | . | . | . | . | 0.707 | 0 | 5.27 | 0.871 | 0.852 | 0.938 | 0.549 | 16.360 | Deleterious (FATHMM) |
| 129 | 1 | 156134910 | C | T | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134910 | 156134910 | C | T | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon4:c.C409T:p.R137W,LMNA:NM_001282626:exon4:c.C745T:p.R249W,LMNA:NM_005572:exon4:c.C745T:p.R249W,LMNA:NM_170707:exon4:c.C745T:p.R249W,LMNA:NM_170708:exon4:c.C745T:p.R249W,LMNA:NM_001282624:exon5:c.C502T:p.R168W,LMNA:NM_001282625:exon7:c.C745T:p.R249W | 1q22 | . | rs121912496 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.395 | M | -3.23 | D | -7.38 | D | 0.962 | 7.270 | 34 | 0.999 | 0.847 | D | 1.014 | D | 0.894 | D | 0.707 | 0 | 3.46 | 0.871 | 0.065 | 0.998 | 0.997 | 12.156 | Deleterious |
| 130 | 1 | 156134911 | G | A | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134911 | 156134911 | G | A | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon4:c.G410A:p.R137Q,LMNA:NM_001282626:exon4:c.G746A:p.R249Q,LMNA:NM_005572:exon4:c.G746A:p.R249Q,LMNA:NM_170707:exon4:c.G746A:p.R249Q,LMNA:NM_170708:exon4:c.G746A:p.R249Q,LMNA:NM_001282624:exon5:c.G503A:p.R168Q,LMNA:NM_001282625:exon7:c.G746A:p.R249Q | 1q22 | . | rs59332535 | 0.002 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.73 | M | -3.09 | D | -3.66 | D | 0.93 | 7.168 | 34 | 1.000 | 0.967 | D | 0.889 | D | 0.847 | D | 0.707 | 0 | 4.33 | 0.917 | 0.953 | 0.999 | 0.999 | 13.413 | Deleterious |
| 131 | 1 | 156134964 | T | C | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156134964 | 156134964 | T | C | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon4:c.T463C:p.Y155H,LMNA:NM_001282626:exon4:c.T799C:p.Y267H,LMNA:NM_005572:exon4:c.T799C:p.Y267H,LMNA:NM_170707:exon4:c.T799C:p.Y267H,LMNA:NM_170708:exon4:c.T799C:p.Y267H,LMNA:NM_001282624:exon5:c.T556C:p.Y186H,LMNA:NM_001282625:exon7:c.T799C:p.Y267H | 1q22 | . | rs267607593 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.945 | M | -3.36 | D | -4.23 | D | 0.985 | 5.845 | 27.3 | 0.998 | 0.957 | D | 1.004 | D | 0.890 | D | 0.707 | 0 | 5.58 | 0.991 | 1.061 | 0.995 | 0.757 | 13.696 | Deleterious |
| 132 | 1 | 156135925 | C | T | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156135925 | 156135925 | C | T | exonic | LMNA | . | stopgain | LMNA:NM_001257374:exon6:c.C625T:p.R209X,LMNA:NM_001282626:exon6:c.C961T:p.R321X,LMNA:NM_005572:exon6:c.C961T:p.R321X,LMNA:NM_170707:exon6:c.C961T:p.R321X,LMNA:NM_170708:exon6:c.C961T:p.R321X,LMNA:NM_001282624:exon7:c.C718T:p.R240X,LMNA:NM_001282625:exon9:c.C961T:p.R321X | 1q22 | . | rs267607554 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.561 | 37 | 0.998 | 0.944 | D | . | . | . | . | 0.707 | 0 | 2.63 | 0.871 | 0.935 | 0.991 | 0.998 | 13.294 | Deleterious (FATHMM) |
| 133 | 1 | 156136021 | C | T | Pathogenic/Likely pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156136021 | 156136021 | C | T | exonic | LMNA | . | stopgain | LMNA:NM_001257374:exon6:c.C721T:p.Q241X,LMNA:NM_001282626:exon6:c.C1057T:p.Q353X,LMNA:NM_005572:exon6:c.C1057T:p.Q353X,LMNA:NM_170707:exon6:c.C1057T:p.Q353X,LMNA:NM_170708:exon6:c.C1057T:p.Q353X,LMNA:NM_001282624:exon7:c.C814T:p.Q272X,LMNA:NM_001282625:exon9:c.C1057T:p.Q353X | 1q22 | . | rs267607623 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.983 | 40 | 0.998 | 0.971 | D | . | . | . | . | 0.707 | 0 | 5.74 | 0.871 | 0.935 | 1.000 | 1.000 | 17.401 | Deleterious (FATHMM) |
| 134 | 1 | 156136093 | C | T | Pathogenic/Likely pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156136093 | 156136093 | C | T | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon6:c.C793T:p.R265C,LMNA:NM_001282626:exon6:c.C1129T:p.R377C,LMNA:NM_005572:exon6:c.C1129T:p.R377C,LMNA:NM_170707:exon6:c.C1129T:p.R377C,LMNA:NM_170708:exon6:c.C1129T:p.R377C,LMNA:NM_001282624:exon7:c.C886T:p.R296C,LMNA:NM_001282625:exon9:c.C1129T:p.R377C | 1q22 | . | rs397517889 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.265 | M | -3.53 | D | -7.0 | D | 0.974 | 7.562 | 34 | 0.999 | 0.909 | D | 1.058 | D | 0.925 | D | 0.707 | 0 | 5.3 | 0.871 | 0.935 | 0.997 | 0.998 | 16.787 | Deleterious |
| 135 | 1 | 156136110 | C | T | Pathogenic/Likely pathogenic, not provided | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156136110 | 156136110 | C | T | exonic | LMNA | . | synonymous SNV | LMNA:NM_001257374:exon6:c.C810T:p.G270G,LMNA:NM_001282626:exon6:c.C1146T:p.G382G,LMNA:NM_005572:exon6:c.C1146T:p.G382G,LMNA:NM_170707:exon6:c.C1146T:p.G382G,LMNA:NM_170708:exon6:c.C1146T:p.G382G,LMNA:NM_001282624:exon7:c.C903T:p.G301G,LMNA:NM_001282625:exon9:c.C1146T:p.G382G | 1q22 | . | rs57508089 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 136 | 1 | 156136350 | C | T | Pathogenic/Likely pathogenic, not provided | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156136350 | 156136350 | C | T | exonic | LMNA | . | stopgain | LMNA:NM_001257374:exon7:c.C958T:p.Q320X,LMNA:NM_001282626:exon7:c.C1294T:p.Q432X,LMNA:NM_005572:exon7:c.C1294T:p.Q432X,LMNA:NM_170707:exon7:c.C1294T:p.Q432X,LMNA:NM_170708:exon7:c.C1294T:p.Q432X,LMNA:NM_001282624:exon8:c.C1051T:p.Q351X,LMNA:NM_001282625:exon10:c.C1294T:p.Q432X | 1q22 | . | rs267607618 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.047 | 41 | 0.998 | 0.975 | D | . | . | . | . | 0.719 | 0 | 5.74 | 0.871 | 0.852 | 0.994 | 0.868 | 17.423 | Deleterious (FATHMM) |
| 137 | 1 | 156136413 | C | T | Pathogenic/Likely pathogenic, not provided | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156136413 | 156136413 | C | T | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon7:c.C1021T:p.R341W,LMNA:NM_001282626:exon7:c.C1357T:p.R453W,LMNA:NM_005572:exon7:c.C1357T:p.R453W,LMNA:NM_170707:exon7:c.C1357T:p.R453W,LMNA:NM_170708:exon7:c.C1357T:p.R453W,LMNA:NM_001282624:exon8:c.C1114T:p.R372W,LMNA:NM_001282625:exon10:c.C1357T:p.R453W | 1q22 | . | rs58932704 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | A | 2.79 | M | -4.91 | D | -5.82 | D | 0.971 | 8.077 | 35 | 0.999 | 0.934 | D | 1.108 | D | 0.966 | D | 0.707 | 0 | 5.74 | 0.871 | 0.852 | 0.999 | 0.996 | 17.423 | Deleterious |
| 138 | 1 | 156137207 | C | A | Pathogenic/Likely pathogenic, not provided | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156137207 | 156137207 | C | A | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon9:c.C1247A:p.T416K,LMNA:NM_001282626:exon9:c.C1583A:p.T528K,LMNA:NM_005572:exon9:c.C1583A:p.T528K,LMNA:NM_170707:exon9:c.C1583A:p.T528K,LMNA:NM_170708:exon9:c.C1583A:p.T528K,LMNA:NM_001282624:exon10:c.C1340A:p.T447K,LMNA:NM_001282625:exon12:c.C1583A:p.T528K | 1q22 | . | rs57629361 | 0.003 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.495 | M | -5.04 | D | -3.9 | D | 0.978 | 7.115 | 34 | 0.995 | 0.965 | D | 1.081 | D | 0.974 | D | 0.672 | 0 | 4.68 | 0.871 | 0.935 | 0.995 | 0.980 | 11.499 | Deleterious |
| 139 | 1 | 156137653 | G | A | Pathogenic/Likely pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156137653 | 156137653 | G | A | splicing | LMNA | NM_001282625:exon13:c.1609-1G>A,NM_170707:exon10:c.1609-1G>A,NM_005572:exon10:c.1609-1G>A,NM_001282626:exon10:c.1609-1G>A,NM_001282624:exon11:c.1366-1G>A,NM_001257374:exon10:c.1273-1G>A | . | . | 1q22 | . | rs111569862 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.498 | 24.3 | 0.995 | 0.978 | D | . | . | . | . | 0.257 | 0 | 5.6 | 0.917 | 1.048 | 0.820 | 0.918 | 17.100 | Deleterious (FATHMM) |
| 140 | 1 | 156137666 | C | T | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156137666 | 156137666 | C | T | exonic | LMNA | . | nonsynonymous SNV | LMNA:NM_001257374:exon10:c.C1285T:p.R429C,LMNA:NM_001282626:exon10:c.C1621T:p.R541C,LMNA:NM_005572:exon10:c.C1621T:p.R541C,LMNA:NM_170707:exon10:c.C1621T:p.R541C,LMNA:NM_001282624:exon11:c.C1378T:p.R460C,LMNA:NM_001282625:exon13:c.C1621T:p.R541C | 1q22 | . | rs56984562 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 2.975 | M | -4.86 | D | -6.16 | D | 0.972 | 7.868 | 35 | 0.999 | 0.885 | D | 1.083 | D | 0.961 | D | 0.706 | 0 | 4.63 | 0.871 | 0.935 | 1.000 | 1.000 | 10.872 | Deleterious |
| 141 | 1 | 156138613 | C | T | Pathogenic | LMNA | . | . | . | . | . | . | . | . | . | . | 1 | 156138613 | 156138613 | C | T | exonic | LMNA | . | synonymous SNV | LMNA:NM_170708:exon10:c.C1734T:p.G578G,LMNA:NM_001257374:exon11:c.C1488T:p.G496G,LMNA:NM_170707:exon11:c.C1824T:p.G608G | 1q22 | . | rs58596362 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 142 | 1 | 161306426 | G | C | Pathogenic/Likely pathogenic | MPZ | . | . | . | . | . | . | . | . | . | . | 1 | 161306426 | 161306426 | G | C | exonic | MPZ | . | synonymous SNV | MPZ:NM_000530:exon4:c.G487G:p.G163G | 1q23.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 143 | 1 | 161306722 | A | C | Pathogenic | MPZ | . | . | . | . | . | . | . | . | . | . | 1 | 161306722 | 161306722 | A | C | exonic | MPZ | . | nonsynonymous SNV | MPZ:NM_000530:exon3:c.A434G:p.Y145C | 1q23.3 | . | . | 0.038 | D | 0.972 | D | 0.717 | P | 0.001 | N | 1 | D | 0.895 | L | -0.18 | T | -2.37 | N | 0.754 | 4.296 | 24.0 | 0.998 | 0.815 | D | -0.845 | T | 0.151 | T | 0.658 | 0 | 4.93 | 0.991 | 1.042 | 0.997 | 0.998 | 12.578 | Tolerated |
| 144 | 1 | 161306863 | G | A | Pathogenic | MPZ | . | . | . | . | . | . | . | . | . | . | 1 | 161306863 | 161306863 | G | A | exonic | MPZ | . | nonsynonymous SNV | MPZ:NM_000530:exon3:c.G293T:p.R98L | 1q23.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.23 | M | -0.66 | T | -6.43 | D | 0.988 | 7.460 | 34 | 0.999 | 0.944 | D | 0.294 | D | 0.558 | D | 0.560 | 0 | 4.7 | 0.871 | 0.935 | 0.998 | 0.999 | 15.179 | Deleterious |
| 145 | 1 | 161306864 | C | T | Pathogenic | MPZ | . | . | . | . | . | . | . | . | . | . | 1 | 161306864 | 161306864 | C | T | exonic | MPZ | . | nonsynonymous SNV | MPZ:NM_000530:exon3:c.C292A:p.R98S | 1q23.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.23 | M | -0.54 | T | -5.44 | D | 0.996 | 6.347 | 29.4 | 0.998 | 0.725 | D | 0.170 | D | 0.523 | D | 0.560 | 0 | 3.71 | -0.045 | 1.048 | 0.997 | 1.000 | 11.813 | Deleterious |
| 146 | 1 | 161307259 | C | T | Pathogenic | MPZ | . | . | . | . | . | . | . | . | . | . | 1 | 161307259 | 161307259 | C | T | exonic | MPZ | . | stopgain | MPZ:NM_000530:exon2:c.C233A:p.S78X | 1q23.3 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.995 | 40 | 0.995 | 0.914 | D | . | . | . | . | 0.653 | 0 | 5.36 | 0.917 | 1.048 | 0.954 | 0.998 | 16.57 | Deleterious (FATHMM) |
| 147 | 1 | 161307376 | A | C | Pathogenic | MPZ | . | . | . | . | . | . | . | . | . | . | 1 | 161307376 | 161307376 | A | C | exonic | MPZ | . | nonsynonymous SNV | MPZ:NM_000530:exon2:c.A116G:p.H39R | 1q23.3 | . | rs371856018 | 0.154 | T | 0.636 | P | 0.299 | B | 0.000 | D | 1 | D | 0.635 | N | -0.06 | T | -1.96 | N | 0.414 | 1.688 | 14.34 | 0.978 | 0.776 | D | -1.000 | T | 0.086 | T | 0.653 | 0 | 5.29 | 0.991 | 1.061 | 0.995 | 0.999 | 13.178 | Tolerated |
| 170 | 1 | 215674781 | C | A | Pathogenic/Likely pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 215674781 | 215674781 | C | A | exonic | USH2A | . | nonsynonymous SNV | USH2A:NM_206933:exon63:c.C13130T:p.S4377L | 1q41 | . | . | 0.009 | D | 0.028 | B | 0.027 | B | 0.058 | U | 0.953 | N | 1.655 | L | 0.3 | T | -2.29 | N | 0.127 | 3.212 | 22.7 | 0.998 | 0.960 | D | -0.966 | T | 0.149 | T | 0.487 | 0 | 3.12 | 0.917 | 0.998 | 0.541 | 0.510 | 9.875 | Tolerated |
| 171 | 1 | 215680378 | A | G | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 215680378 | 215680378 | A | G | splicing | USH2A | NM_206933:exon62:c.12067-2T>C | . | . | 1q41 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.368 | 24.1 | 0.992 | 0.994 | D | . | . | . | . | 0.061 | 0 | 5.26 | 0.991 | 1.061 | 0.949 | 0.956 | 15.186 | Deleterious (FATHMM) |
| 172 | 1 | 215728232 | G | A | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 215728232 | 215728232 | G | A | exonic | USH2A | . | nonsynonymous SNV | USH2A:NM_206933:exon61:c.G11864T:p.W3955L | 1q41 | . | . | 0.012 | D | 1.0 | D | 0.997 | D | 0.001 | D | 1 | D | 3.02 | M | 0.67 | T | -8.8 | D | 0.669 | 6.597 | 31 | 0.985 | 0.991 | D | -0.483 | T | 0.344 | T | 0.487 | 0 | 5.53 | 0.871 | 0.892 | 0.321 | 0.246 | 19.456 | Tolerated |
| 173 | 1 | 215790168 | G | A | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 215790168 | 215790168 | G | A | exonic | USH2A | . | nonsynonymous SNV | USH2A:NM_206933:exon51:c.G10073T:p.C3358F | 1q41 | . | . | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.535 | M | 0.97 | T | -7.89 | D | 0.891 | 6.867 | 33 | 0.989 | 0.988 | D | -0.439 | T | 0.309 | T | 0.487 | 0 | 5.76 | 0.871 | 0.935 | 1.000 | 1.000 | 19.976 | Tolerated |
| 174 | 1 | 215877882 | A | G | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 215877882 | 215877882 | A | G | splicing | USH2A | NM_206933:exon43:c.8559-2T>C | . | . | 1q41 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.101 | 25.3 | 0.995 | 0.981 | D | . | . | . | . | 0.054 | 0 | 5.9 | 0.991 | 1.061 | 1.000 | 1.000 | 16.316 | Deleterious (FATHMM) |
| 175 | 1 | 216073096 | G | A | Pathogenic | USH2A|LOC102723833 | . | . | . | . | . | . | . | . | . | . | 1 | 216073096 | 216073096 | G | A | splicing | USH2A | NM_206933:exon28:c.5776+1C>T | . | . | 1q41 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.089 | 28.2 | 0.995 | 0.991 | D | . | . | . | . | 0.061 | 0 | 6.03 | 0.871 | 0.935 | 0.995 | 0.998 | 20.567 | Deleterious (FATHMM) |
| 176 | 1 | 216247185 | C | T | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 216247185 | 216247185 | C | T | exonic | USH2A | . | synonymous SNV | USH2A:NM_007123:exon13:c.C2209A:p.R737R,USH2A:NM_206933:exon13:c.C2209A:p.R737R | 1q41 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 177 | 1 | 216289412 | A | G | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 216289412 | 216289412 | A | G | splicing | USH2A | NM_206933:exon11:c.1841-2T>C,NM_007123:exon11:c.1841-2T>C | . | . | 1q41 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.917 | 25.0 | 0.995 | 0.982 | D | . | . | . | . | 0.061 | 0 | 5.43 | 0.991 | 1.061 | 0.693 | 0.994 | 15.785 | Deleterious (FATHMM) |
| 178 | 1 | 216324240 | G | T | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 216324240 | 216324240 | G | T | exonic | USH2A | . | nonsynonymous SNV | USH2A:NM_007123:exon7:c.G1256A:p.C419Y,USH2A:NM_206933:exon7:c.G1256A:p.C419Y | 1q41 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.005 | N | 1 | D | 3.28 | M | -0.03 | T | -7.5 | D | 0.973 | 6.694 | 32 | 0.998 | 0.989 | D | 0.296 | D | 0.554 | D | 0.487 | 0 | 5.42 | 0.871 | 0.935 | 0.995 | 0.989 | 19.195 | Deleterious |
| 179 | 1 | 216325499 | C | A | Pathogenic | USH2A | . | . | . | . | . | . | . | . | . | . | 1 | 216325499 | 216325499 | C | A | exonic | USH2A | . | nonsynonymous SNV | USH2A:NM_007123:exon6:c.C949T:p.R317W,USH2A:NM_206933:exon6:c.C949T:p.R317W | 1q41 | . | . | 0.003 | D | 1.0 | D | 0.989 | D | 0.030 | N | 0.997 | D | 2.39 | M | 2.41 | T | -4.19 | D | 0.449 | 5.826 | 27.2 | 0.999 | 0.830 | D | -0.888 | T | 0.133 | T | 0.487 | 0 | 1.9 | 0.917 | 1.048 | 0.996 | 0.549 | 13.102 | Tolerated |
| 180 | 1 | 218436110 | C | T | Pathogenic/Likely pathogenic | TGFB2 | . | . | . | . | . | . | . | . | . | . | 1 | 218436110 | 218436110 | C | T | exonic | TGFB2 | . | nonsynonymous SNV | TGFB2:NM_003238:exon5:c.C895T:p.R299W,TGFB2:NM_001135599:exon6:c.C979T:p.R327W | 1q41 | . | rs863223792 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 1.995 | M | -1.15 | T | -5.71 | D | 0.925 | 8.104 | 35 | 0.999 | 0.963 | D | 0.193 | D | 0.595 | D | 0.732 | 0 | 6.17 | 0.871 | 0.935 | 0.999 | 1.000 | 15.581 | Deleterious |
| 181 | 1 | 218436119 | C | T | Pathogenic/Likely pathogenic | TGFB2 | . | . | . | . | . | . | . | . | . | . | 1 | 218436119 | 218436119 | C | T | exonic | TGFB2 | . | nonsynonymous SNV | TGFB2:NM_003238:exon5:c.C904T:p.R302C,TGFB2:NM_001135599:exon6:c.C988T:p.R330C | 1q41 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 1.995 | M | -1.22 | T | -5.56 | D | 0.931 | 7.710 | 35 | 0.999 | 0.924 | D | 0.193 | D | 0.595 | D | 0.732 | 0 | 6.17 | 0.871 | 0.935 | 0.998 | 1.000 | 15.581 | Deleterious |
| 182 | 1 | 236895470 | C | T | Pathogenic/Likely pathogenic | MTR | . | . | . | . | . | . | . | . | . | . | 1 | 236895470 | 236895470 | C | T | exonic | MTR | . | nonsynonymous SNV | MTR:NM_001291939:exon30:c.C3365T:p.P1122L,MTR:NM_001291940:exon30:c.C2297T:p.P766L,MTR:NM_000254:exon31:c.C3518T:p.P1173L | 1q43 | 0.0003 | rs121913578 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.355 | M | -1.31 | T | -9.65 | D | 0.947 | 7.728 | 35 | 0.999 | 0.991 | D | 0.711 | D | 0.763 | D | 0.732 | 0 | 5.57 | 0.871 | 0.892 | 0.993 | 0.920 | 19.554 | Deleterious |
| 183 | 1 | 237377365 | G | A | Pathogenic/Likely pathogenic | RYR2 | . | . | . | . | . | . | . | . | . | . | 1 | 237377365 | 237377365 | G | A | exonic | RYR2 | . | nonsynonymous SNV | RYR2:NM_001035:exon8:c.G506A:p.R169Q | 1q43 | . | rs397516539 | 0.0 | D | 0.999 | D | 0.833 | P | 0.000 | D | 1.000 | D | 2.885 | M | -5.21 | D | -3.01 | D | 0.939 | 6.024 | 27.9 | 1.000 | 0.981 | D | 1.101 | D | 0.967 | D | 0.554 | 0 | 5.17 | 0.917 | 1.048 | 0.991 | 0.997 | 17.812 | Deleterious |
| 184 | 1 | 237377386 | G | A | Pathogenic | RYR2 | . | . | . | . | . | . | . | . | . | . | 1 | 237377386 | 237377386 | G | A | exonic | RYR2 | . | nonsynonymous SNV | RYR2:NM_001035:exon8:c.G527A:p.R176Q | 1q43 | . | rs794728708 | 0.0 | D | 0.999 | D | 0.874 | P | 0.000 | D | 0.999 | D | 2.81 | M | -4.92 | D | -3.01 | D | 0.82 | 5.288 | 25.7 | 1.000 | 0.979 | D | 1.103 | D | 0.962 | D | 0.554 | 0 | 5.17 | 0.917 | 1.048 | 0.992 | 0.306 | 17.812 | Deleterious |
| 185 | 1 | 237445488 | C | T | Pathogenic | RYR2 | . | . | . | . | . | . | . | . | . | . | 1 | 237445488 | 237445488 | C | T | exonic | RYR2 | . | nonsynonymous SNV | RYR2:NM_001035:exon14:c.C1258T:p.R420W | 1q43 | . | rs190140598 | 0.001 | D | 1.0 | D | 0.895 | P | 0.000 | D | 1.000 | D | 2.18 | M | -4.3 | D | -4.15 | D | 0.949 | 7.169 | 34 | 0.999 | 0.941 | D | 1.028 | D | 0.927 | D | 0.487 | 0 | 5.84 | 0.871 | 0.892 | 0.975 | 0.990 | 13.356 | Deleterious |
| 186 | 1 | 237638480 | G | A | Pathogenic | RYR2 | . | . | . | . | . | . | . | . | . | . | 1 | 237638480 | 237638480 | G | A | exonic | RYR2 | . | nonsynonymous SNV | RYR2:NM_001035:exon45:c.G6916A:p.V2306I | 1q43 | . | rs794728746 | 0.061 | T | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | D | 2.075 | M | -3.94 | D | -0.91 | N | 0.846 | 6.735 | 32 | 0.998 | 0.995 | D | 1.033 | D | 0.916 | D | 0.554 | 0 | 5.31 | 0.917 | 0.940 | 0.998 | 0.998 | 19.348 | Deleterious |
| 187 | 1 | 237640983 | G | A | Pathogenic/Likely pathogenic | RYR2 | . | . | . | . | . | . | . | . | . | . | 1 | 237640983 | 237640983 | G | A | exonic | RYR2 | . | nonsynonymous SNV | RYR2:NM_001035:exon47:c.G7202A:p.R2401H | 1q43 | . | rs794728756 | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | D | 2.73 | M | -5.76 | D | -4.56 | D | 0.926 | 7.701 | 35 | 0.999 | 0.989 | D | 1.066 | D | 0.980 | D | 0.554 | 0 | 4.66 | 0.917 | 0.998 | 0.993 | 0.785 | 15.949 | Deleterious |
| 188 | 1 | 237808913 | G | A | Pathogenic/Likely pathogenic | RYR2 | . | . | . | . | . | . | . | . | . | . | 1 | 237808913 | 237808913 | G | A | exonic | RYR2 | . | nonsynonymous SNV | RYR2:NM_001035:exon100:c.G14311A:p.V4771I | 1q43 | . | rs794728804 | 0.129 | T | 0.999 | D | 0.984 | D | 0.000 | U | 1.000 | D | 1.9 | L | -4.92 | D | -0.87 | N | 0.826 | 5.432 | 26.1 | 0.998 | 0.991 | D | 1.084 | D | 0.953 | D | 0.554 | 0 | 4.88 | 0.917 | 0.953 | 0.994 | 0.714 | 18.388 | Deleterious |
| 189 | 1 | 241500572 | T | C | Pathogenic/Likely pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241500572 | 241500572 | T | C | exonic | FH | . | nonsynonymous SNV | FH:NM_000143:exon9:c.T1255G:p.S419A | 1q43 | . | . | 0.0 | D | 0.997 | D | 0.997 | D | 0.000 | D | 1 | D | 3.445 | M | -4.11 | D | -2.97 | D | 0.721 | 6.326 | 29.3 | 0.997 | 0.942 | D | 1.098 | D | 0.951 | D | 0.744 | 0 | 5.71 | 1.062 | 1.199 | 0.998 | 1.000 | 13.933 | Deleterious |
| 190 | 1 | 241504057 | A | G | Pathogenic/Likely pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241504057 | 241504057 | A | G | exonic | FH | . | nonsynonymous SNV | FH:NM_000143:exon7:c.A1093C:p.S365R | 1q43 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.77 | H | -10.15 | D | -4.98 | D | 0.945 | 6.600 | 31 | 0.998 | 0.973 | D | 1.133 | D | 1.000 | D | 0.707 | 0 | 5.73 | 0.991 | 1.061 | 0.998 | 0.997 | 13.970 | Deleterious |
| 191 | 1 | 241504083 | T | A | Pathogenic/Likely pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241504083 | 241504083 | T | A | exonic | FH | . | synonymous SNV | FH:NM_000143:exon7:c.T1067T:p.L356L | 1q43 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 192 | 1 | 241504123 | C | T | Pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241504123 | 241504123 | C | T | exonic | FH | . | synonymous SNV | FH:NM_000143:exon7:c.C1027A:p.R343R | 1q43 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 193 | 1 | 241504198 | C | T | Pathogenic/Likely pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241504198 | 241504198 | C | T | exonic | FH | . | nonsynonymous SNV | FH:NM_000143:exon7:c.C952A:p.H318N | 1q43 | . | . | 0.076 | T | 0.019 | B | 0.121 | B | 0.000 | D | 1 | D | 2.19 | M | -6.32 | D | -5.09 | D | 0.673 | 3.469 | 23.0 | 0.989 | 0.993 | D | 1.028 | D | 0.968 | D | 0.707 | 0 | 5.73 | 0.917 | 1.048 | 0.999 | 0.992 | 17.394 | Deleterious |
| 194 | 1 | 241508643 | G | A | Pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241508643 | 241508643 | G | A | exonic | FH | . | nonsynonymous SNV | FH:NM_000143:exon5:c.G698T:p.R233L | 1q43 | . | rs121913123 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.765 | H | -6.46 | D | -6.84 | D | 0.996 | 8.060 | 35 | 0.999 | 0.993 | D | 0.927 | D | 0.995 | D | 0.722 | 0 | 5.65 | 0.871 | 0.935 | 0.976 | 0.871 | 17.578 | Deleterious |
| 195 | 1 | 241508644 | C | T | Pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241508644 | 241508644 | C | T | exonic | FH | . | nonsynonymous SNV | FH:NM_000143:exon5:c.C697A:p.R233S | 1q43 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.765 | H | -6.48 | D | -5.86 | D | 0.988 | 7.336 | 34 | 0.998 | 0.995 | D | 0.927 | D | 0.995 | D | 0.722 | 0 | 5.65 | 0.917 | 1.048 | 0.978 | 0.880 | 17.578 | Deleterious |
| 196 | 1 | 241513661 | A | C | Pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241513661 | 241513661 | A | C | exonic | FH | . | nonsynonymous SNV | FH:NM_000143:exon3:c.A320G:p.N107S | 1q43 | . | . | 0.005 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.07 | H | -6.19 | D | -4.65 | D | 0.412 | 3.293 | 22.8 | 0.998 | 0.956 | D | 0.975 | D | 0.991 | D | 0.737 | 0 | 5.85 | 0.991 | 1.061 | 1.000 | 1.000 | 14.194 | Deleterious |
| 197 | 1 | 241513680 | C | T | Pathogenic | FH | . | . | . | . | . | . | . | . | . | . | 1 | 241513680 | 241513680 | C | T | exonic | FH | . | synonymous SNV | FH:NM_000143:exon3:c.C301A:p.R101R | 1q43 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 198 | 2 | 21006289 | C | T | Pathogenic/Likely pathogenic | APOB | . | . | . | . | . | . | . | . | . | . | 2 | 21006289 | 21006289 | C | T | exonic | APOB | . | synonymous SNV | APOB:NM_000384:exon26:c.C10579A:p.R3527R | 2p24.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 199 | 2 | 26195184 | G | C | Pathogenic | HADHA|GAREM2 | . | . | . | . | . | . | . | . | . | . | 2 | 26195184 | 26195184 | G | C | exonic | HADHA | . | synonymous SNV | HADHA:NM_000182:exon15:c.G1528G:p.E510E | 2p23.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 200 | 2 | 26212628 | A | G | Pathogenic | HADHA | . | . | . | . | . | . | . | . | . | . | 2 | 26212628 | 26212628 | A | G | splicing | HADHA | NM_000182:exon10:c.919-2T>C | . | . | 2p23.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.244 | 23.9 | 0.992 | 0.846 | D | . | . | . | . | 0.099 | 0 | 5.32 | 0.991 | 1.061 | 0.997 | 0.955 | 14.398 | Deleterious (FATHMM) |
| 201 | 2 | 26238931 | A | G | Pathogenic | HADHA | . | . | . | . | . | . | . | . | . | . | 2 | 26238931 | 26238931 | A | G | intronic | HADHA | . | . | . | 2p23.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 202 | 2 | 26238957 | C | T | Pathogenic | HADHA | . | . | . | . | . | . | . | . | . | . | 2 | 26238957 | 26238957 | C | T | exonic | HADHA | . | synonymous SNV | HADHA:NM_000182:exon3:c.C157A:p.R53R | 2p23.3 | 7.7e-05 | rs147103714 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 203 | 2 | 26477210 | C | T | Pathogenic, association | OTOF | . | . | . | . | . | . | . | . | . | . | 2 | 26477210 | 26477210 | C | T | exonic | OTOF | . | nonsynonymous SNV | OTOF:NM_194322:exon3:c.C415A:p.Q139K,OTOF:NM_004802:exon4:c.C244A:p.Q82K,OTOF:NM_194323:exon4:c.C244A:p.Q82K,OTOF:NM_001287489:exon21:c.C2485A:p.Q829K,OTOF:NM_194248:exon21:c.C2485A:p.Q829K | 2p23.3 | . | . | 0.459 | T | 0.003 | B | 0.003 | B | 0.000 | D | 0.998 | D | 1.82 | L | -1.04 | T | -2.73 | D | 0.362 | 2.116 | 16.96 | 0.966 | 0.925 | D | -0.382 | T | 0.424 | T | 0.554 | 0 | 5.0 | 0.917 | 0.933 | 0.992 | 1.000 | 16.870 | Tolerated |
| 204 | 2 | 26477725 | G | T | Pathogenic | OTOF | . | . | . | . | . | . | . | . | . | . | 2 | 26477725 | 26477725 | G | T | exonic | OTOF | . | nonsynonymous SNV | OTOF:NM_194322:exon1:c.G169A:p.E57K,OTOF:NM_001287489:exon19:c.G2239A:p.E747K,OTOF:NM_194248:exon19:c.G2239A:p.E747K | 2p23.3 | . | . | 0.426 | T | 0.995 | D | 0.919 | D | 0.000 | D | 1 | D | 1.965 | M | -1.1 | T | -2.01 | N | 0.907 | 4.063 | 23.7 | 0.999 | 0.994 | D | -0.086 | T | 0.566 | D | 0.554 | 0 | 4.83 | 0.871 | 0.852 | 0.996 | 1.000 | 17.507 | Deleterious |
| 205 | 2 | 27312576 | C | T | Pathogenic | MPV17 | . | . | . | . | . | . | . | . | . | . | 2 | 27312576 | 27312576 | C | T | exonic | MPV17 | . | nonsynonymous SNV | MPV17:NM_002437:exon5:c.C293A:p.P98Q | 2p23.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.87 | H | -3.04 | D | -7.33 | D | 0.764 | 5.857 | 27.3 | 0.991 | 0.969 | D | 1.078 | D | 0.961 | D | 0.732 | 0 | 4.57 | 0.917 | 0.143 | 1.000 | 0.979 | 10.040 | Deleterious |
| 206 | 2 | 32127017 | A | G | Pathogenic | SPAST | . | . | . | . | . | . | . | . | . | . | 2 | 32127017 | 32127017 | A | G | exonic | SPAST | . | nonsynonymous SNV | SPAST:NM_199436:exon7:c.A1072G:p.M358V,SPAST:NM_014946:exon8:c.A1168G:p.M390V | 2p22.3 | . | rs797044850 | 0.007 | D | 0.941 | P | 0.779 | P | 0.000 | D | 1 | D | 1.725 | L | -3.54 | D | -2.47 | N | 0.964 | 5.419 | 26.0 | 0.995 | 0.986 | D | 0.885 | D | 0.851 | D | 0.706 | 0 | 5.69 | 1.062 | 1.199 | 0.998 | 1.000 | 15.611 | Deleterious |
| 207 | 2 | 38075218 | G | A | Pathogenic/Likely pathogenic | CYP1B1 | . | . | . | . | . | . | . | . | . | . | 2 | 38075218 | 38075218 | G | A | exonic | CYP1B1 | . | nonsynonymous SNV | CYP1B1:NM_000104:exon2:c.G171T:p.W57C | 2p22.2 | . | . | . | . | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.48 | M | . | . | . | . | 0.947 | 5.550 | 26.4 | 0.987 | 0.842 | D | 0.366 | D | 0.570 | D | 0.598 | 0 | 4.22 | 0.871 | 0.888 | 0.875 | 0.743 | 14.141 | Deleterious |
| 208 | 2 | 39007168 | G | A | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39007168 | 39007168 | G | A | exonic | SOS1 | . | stopgain | SOS1:NM_005633:exon16:c.G2536T:p.E846X | 2p22.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.582 | 42 | 0.998 | 0.993 | D | . | . | . | . | 0.732 | 0 | 5.65 | 0.871 | 0.919 | 1.000 | 1.000 | 19.715 | Deleterious (FATHMM) |
| 209 | 2 | 39022772 | G | T | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39022772 | 39022772 | G | T | exonic | SOS1 | . | synonymous SNV | SOS1:NM_005633:exon10:c.G1656A:p.R552R | 2p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 210 | 2 | 39022772 | G | C | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39022772 | 39022772 | G | C | exonic | SOS1 | . | synonymous SNV | SOS1:NM_005633:exon10:c.G1656G:p.R552R | 2p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 211 | 2 | 39022773 | G | A | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39022773 | 39022773 | G | A | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon10:c.G1655T:p.R552M | 2p22.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.78 | M | -2.43 | D | -5.67 | D | 0.963 | 6.175 | 28.6 | 0.963 | 0.955 | D | 0.849 | D | 0.849 | D | 0.707 | 0 | 5.78 | 0.871 | 0.935 | 0.998 | 0.998 | 20.004 | Deleterious |
| 212 | 2 | 39022773 | G | C | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39022773 | 39022773 | G | C | exonic | SOS1 | . | synonymous SNV | SOS1:NM_005633:exon10:c.G1655G:p.R552R | 2p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 213 | 2 | 39022774 | A | G | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39022774 | 39022774 | A | G | exonic | SOS1 | . | synonymous SNV | SOS1:NM_005633:exon10:c.A1654C:p.R552R | 2p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 214 | 2 | 39022786 | A | C | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39022786 | 39022786 | A | C | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon10:c.A1642G:p.S548G | 2p22.1 | . | . | 0.012 | D | 0.995 | D | 0.921 | D | 0.000 | D | 1 | D | 2.39 | M | -2.35 | D | -3.48 | D | 0.73 | 2.561 | 19.86 | 0.998 | 0.778 | D | 0.766 | D | 0.804 | D | 0.707 | 0 | 5.78 | 0.991 | 1.061 | 0.992 | 0.936 | 16.103 | Deleterious |
| 215 | 2 | 39023106 | G | A | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39023106 | 39023106 | G | A | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon10:c.G1322T:p.C441F | 2p22.1 | . | . | 0.001 | D | 0.999 | D | 0.98 | D | 0.000 | D | 1 | D | 2.395 | M | -2.28 | D | -9.8 | D | 0.983 | 6.131 | 28.4 | 0.993 | 0.990 | D | 0.716 | D | 0.798 | D | 0.707 | 0 | 5.52 | 0.871 | 0.935 | 0.999 | 1.000 | 19.8 | Deleterious |
| 216 | 2 | 39023118 | T | C | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39023118 | 39023118 | T | C | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon10:c.T1310G:p.I437S | 2p22.1 | . | rs397517150 | 0.0 | D | 0.994 | D | 0.983 | D | 0.000 | D | 1 | D | 2.25 | M | -2.48 | D | -4.81 | D | 0.953 | 5.509 | 26.3 | 0.994 | 0.992 | D | 0.782 | D | 0.807 | D | 0.707 | 0 | 5.52 | 1.062 | 1.199 | 1.000 | 1.000 | 15.932 | Deleterious |
| 217 | 2 | 39023128 | G | A | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39023128 | 39023128 | G | A | exonic | SOS1 | . | stopgain | SOS1:NM_005633:exon10:c.G1300T:p.G434X | 2p22.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.939 | 37 | 0.992 | 0.990 | D | . | . | . | . | 0.707 | 0 | 5.52 | 0.871 | 0.935 | 1.000 | 1.000 | 19.8 | Deleterious (FATHMM) |
| 218 | 2 | 39023131 | G | A | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39023131 | 39023131 | G | A | exonic | SOS1 | . | stopgain | SOS1:NM_005633:exon10:c.G1297T:p.E433X | 2p22.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.271 | 37 | 0.998 | 0.990 | D | . | . | . | . | 0.707 | 0 | 5.52 | 0.871 | 0.935 | 1.000 | 1.000 | 19.8 | Deleterious (FATHMM) |
| 219 | 2 | 39023134 | T | C | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39023134 | 39023134 | T | C | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon10:c.T1294G:p.W432G | 2p22.1 | . | . | 0.0 | D | 1.0 | D | 0.984 | D | 0.000 | D | 1 | D | 2.365 | M | -2.57 | D | -12.05 | D | 0.958 | 4.988 | 25.1 | 0.980 | 0.992 | D | 0.800 | D | 0.813 | D | 0.707 | 0 | 5.52 | 1.062 | 1.199 | 1.000 | 0.998 | 15.932 | Deleterious |
| 220 | 2 | 39035440 | G | T | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39035440 | 39035440 | G | T | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon7:c.G925A:p.D309N | 2p22.1 | . | . | 0.41 | T | 0.005 | B | 0.014 | B | 0.000 | D | 1.000 | D | 1.32 | L | -0.03 | T | -1.49 | N | 0.065 | 3.094 | 22.5 | 0.999 | 0.934 | D | -0.874 | T | 0.209 | T | 0.732 | 0 | 5.55 | 0.871 | 0.935 | 0.949 | 0.998 | 19.505 | Tolerated |
| 221 | 2 | 39051202 | T | C | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39051202 | 39051202 | T | C | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon6:c.T806G:p.M269R | 2p22.1 | . | rs137852813 | 0.001 | D | 0.997 | D | 0.995 | D | 0.000 | D | 1 | A | 2.495 | M | -3.04 | D | -5.05 | D | 0.984 | 5.680 | 26.7 | 0.985 | 0.992 | D | 0.938 | D | 0.870 | D | 0.651 | 0 | 5.65 | 1.062 | 1.199 | 1.000 | 1.000 | 15.541 | Deleterious |
| 222 | 2 | 39051202 | T | G | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39051202 | 39051202 | T | G | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon6:c.T806C:p.M269T | 2p22.1 | . | rs137852813 | 0.001 | D | 0.991 | D | 0.988 | D | 0.000 | D | 1 | D | 2.15 | M | -3.01 | D | -4.59 | D | 0.987 | 5.218 | 25.6 | 0.987 | 0.991 | D | 0.897 | D | 0.855 | D | 0.651 | 0 | 5.65 | 1.062 | 1.199 | 1.000 | 1.000 | 15.541 | Deleterious |
| 223 | 2 | 39051211 | C | A | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39051211 | 39051211 | C | A | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon6:c.C797T:p.T266I | 2p22.1 | . | . | 0.331 | T | 0.046 | B | 0.179 | B | 0.004 | N | 1.000 | D | 1.245 | L | -2.98 | D | -0.04 | N | 0.483 | 4.185 | 23.8 | 0.995 | 0.992 | D | 0.127 | D | 0.701 | D | 0.651 | 0 | 5.65 | 0.917 | 1.048 | 0.995 | 0.999 | 19.329 | Deleterious |
| 224 | 2 | 39056704 | A | G | Pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39056704 | 39056704 | A | G | exonic | SOS1 | . | nonsynonymous SNV | SOS1:NM_005633:exon4:c.A508C:p.K170Q | 2p22.1 | . | . | 0.023 | D | 0.998 | D | 0.995 | D | 0.000 | D | 1 | D | 1.04 | L | -1.95 | D | -2.13 | N | 0.697 | 2.845 | 21.6 | 0.995 | 0.997 | D | 0.395 | D | 0.649 | D | 0.706 | 0 | 5.84 | 0.991 | 1.061 | 1.000 | 0.998 | 16.212 | Deleterious |
| 225 | 2 | 39058696 | G | A | Pathogenic/Likely pathogenic | SOS1 | . | . | . | . | . | . | . | . | . | . | 2 | 39058696 | 39058696 | G | A | exonic | SOS1 | . | stopgain | SOS1:NM_005633:exon3:c.G322T:p.E108X | 2p22.1 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.411 | 39 | 0.998 | 0.991 | D | . | . | . | . | 0.706 | 0 | 5.9 | 0.871 | 0.935 | 1.000 | 1.000 | 20.279 | Deleterious (FATHMM) |
| 226 | 2 | 43822924 | C | T | Pathogenic/Likely pathogenic | DYNC2LI1|ABCG5 | . | . | . | . | . | . | . | . | . | . | 2 | 43822924 | 43822924 | C | T | exonic | ABCG5 | . | synonymous SNV | ABCG5:NM_022436:exon10:c.C1336A:p.R446R | 2p21 | . | rs199689137 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 227 | 2 | 43872094 | G | A | Pathogenic | ABCG8 | . | . | . | . | . | . | . | . | . | . | 2 | 43872094 | 43872094 | G | A | exonic | ABCG8 | . | stopgain | ABCG8:NM_022437:exon7:c.G1083A:p.W361X | 2p21 | 0.0010 | rs137852987 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.758 | 38 | 0.997 | 0.985 | D | . | . | . | . | 0.487 | 0 | 4.9 | 0.917 | 1.048 | 0.979 | 0.906 | 18.090 | Deleterious (FATHMM) |
| 228 | 2 | 43875377 | G | A | Pathogenic/Likely pathogenic | ABCG8 | . | . | . | . | . | . | . | . | . | . | 2 | 43875377 | 43875377 | G | A | exonic | ABCG8 | . | nonsynonymous SNV | ABCG8:NM_022437:exon11:c.G1720A:p.G574R | 2p21 | 0.0002 | rs137852988 | 0.005 | D | 1.0 | D | 0.978 | D | 0.000 | D | 0.000 | A | 2.015 | M | -0.73 | T | -4.98 | D | 0.893 | 4.146 | 23.8 | 0.987 | 0.963 | D | 0.030 | D | 0.455 | T | 0.487 | 0 | 2.77 | 0.917 | 0.127 | 0.229 | 0.067 | 10.519 | Tolerated |
| 229 | 2 | 44312653 | T | C | Pathogenic | SLC3A1 | . | . | . | . | . | . | . | . | . | . | 2 | 44312653 | 44312653 | T | C | exonic | SLC3A1 | . | nonsynonymous SNV | SLC3A1:NM_000341:exon8:c.T1400C:p.M467T | 2p21 | 0.0021 | rs121912691 | 0.151 | T | 0.926 | P | 0.683 | P | 0.000 | D | 1 | D | 0.98 | L | -5.91 | D | -3.33 | D | 0.932 | 5.267 | 25.7 | 0.993 | 0.982 | D | 1.101 | D | 0.955 | D | 0.476 | 0 | 5.82 | 0.991 | 0.913 | 0.997 | 0.963 | 16.187 | Deleterious |
| 230 | 2 | 46950464 | G | T | Pathogenic | TTC7A | . | . | . | . | . | . | . | . | . | . | 2 | 46950464 | 46950464 | G | T | exonic | TTC7A | . | stopgain | TTC7A:NM_001288951:exon2:c.G286T:p.E96X,TTC7A:NM_020458:exon2:c.G286T:p.E96X,TTC7A:NM_001288953:exon3:c.G184T:p.E62X | 2p21 | . | . | . | . | . | . | . | . | 0.103 | N | 1 | A | . | . | . | . | . | . | . | 11.584 | 37 | 0.997 | 0.937 | D | . | . | . | . | 0.706 | 0 | 4.4 | -0.044 | 1.048 | 0.075 | 0.858 | 17.145 | Deleterious (FATHMM) |
| 231 | 2 | 47412558 | C | T | Pathogenic | MSH2 | . | . | . | . | . | . | . | . | . | . | 2 | 47412558 | 47412558 | C | T | exonic | MSH2 | . | stopgain | MSH2:NM_000251:exon4:c.C790T:p.Q264X,MSH2:NM_001258281:exon5:c.C592T:p.Q198X | 2p21 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.551 | 37 | 0.998 | 0.994 | D | . | . | . | . | 0.732 | 0 | 5.54 | 0.871 | 0.935 | 0.997 | 0.990 | 19.486 | Deleterious (FATHMM) |
| 232 | 2 | 47783243 | C | T | Pathogenic/Likely pathogenic | MSH6 | . | . | . | . | . | . | . | . | . | . | 2 | 47783243 | 47783243 | C | T | exonic | MSH6 | . | stopgain | MSH6:NM_000179:exon1:c.C10T:p.Q4X,MSH6:NM_001281492:exon1:c.C10T:p.Q4X | 2p16.3 | . | rs786201042 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.206 | 36 | 0.998 | 0.425 | N | . | . | . | . | 0.442 | 0 | 4.11 | 0.768 | 0.705 | 0.996 | 0.989 | 15.071 | Deleterious (DANN) |
| 233 | 2 | 47798972 | C | A | Pathogenic | MSH6 | . | . | . | . | . | . | . | . | . | . | 2 | 47798972 | 47798972 | C | A | exonic | MSH6 | . | stopgain | MSH6:NM_001281492:exon2:c.C599A:p.S200X,MSH6:NM_001281493:exon3:c.C83A:p.S28X,MSH6:NM_000179:exon4:c.C989A:p.S330X,MSH6:NM_001281494:exon4:c.C83A:p.S28X | 2p16.3 | . | rs786202848 | . | . | . | . | . | . | 0.010 | N | 1 | D | . | . | . | . | . | . | . | 8.718 | 35 | 0.993 | 0.878 | D | . | . | . | . | 0.672 | 0 | 2.16 | 0.008 | 0.077 | 0.229 | 0.946 | 7.979 | Deleterious (FATHMM) |
| 234 | 2 | 47799788 | C | G | Pathogenic | MSH6 | . | . | . | . | . | . | . | . | . | . | 2 | 47799788 | 47799788 | C | G | exonic | MSH6 | . | stopgain | MSH6:NM_001281492:exon2:c.C1415G:p.S472X,MSH6:NM_001281493:exon3:c.C899G:p.S300X,MSH6:NM_000179:exon4:c.C1805G:p.S602X,MSH6:NM_001281494:exon4:c.C899G:p.S300X | 2p16.3 | . | rs730881816 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 10.460 | 36 | 0.995 | 0.989 | D | . | . | . | . | 0.672 | 0 | 4.95 | 0.871 | 0.892 | 0.784 | 0.736 | 18.552 | Deleterious (FATHMM) |
| 235 | 2 | 47803419 | G | C | Pathogenic/Likely pathogenic | MSH6 | . | . | . | . | . | . | . | . | . | . | 2 | 47803419 | 47803419 | G | C | splicing | MSH6 | NM_001281493:exon4:c.2267-1G>C,NM_000179:exon5:c.3173-1G>C,NM_001281492:exon3:c.2783-1G>C,NM_001281494:exon5:c.2267-1G>C | . | . | 2p16.3 | . | rs397515875 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.132 | 25.4 | 0.995 | 0.983 | D | . | . | . | . | 0.257 | 0 | 5.42 | 0.917 | 0.902 | 0.989 | 0.996 | 19.209 | Deleterious (FATHMM) |
| 236 | 2 | 61839695 | A | T | Pathogenic | FAM161A | . | . | . | . | . | . | . | . | . | . | 2 | 61839695 | 61839695 | A | T | exonic | FAM161A | . | synonymous SNV | FAM161A:NM_001201543:exon3:c.A1309A:p.R437R,FAM161A:NM_032180:exon3:c.A1309A:p.R437R | 2p15 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 237 | 2 | 71503308 | C | T | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71503308 | 71503308 | C | T | exonic | DYSF | . | stopgain | DYSF:NM_001130455:exon4:c.C334T:p.Q112X,DYSF:NM_001130976:exon4:c.C331T:p.Q111X,DYSF:NM_001130977:exon4:c.C331T:p.Q111X,DYSF:NM_001130978:exon4:c.C331T:p.Q111X,DYSF:NM_001130979:exon4:c.C331T:p.Q111X,DYSF:NM_001130980:exon4:c.C331T:p.Q111X,DYSF:NM_001130981:exon4:c.C331T:p.Q111X,DYSF:NM_001130982:exon4:c.C334T:p.Q112X,DYSF:NM_001130983:exon4:c.C334T:p.Q112X,DYSF:NM_001130984:exon4:c.C334T:p.Q112X,DYSF:NM_001130985:exon4:c.C334T:p.Q112X,DYSF:NM_001130986:exon4:c.C334T:p.Q112X,DYSF:NM_001130987:exon4:c.C334T:p.Q112X,DYSF:NM_003494:exon4:c.C331T:p.Q111X | 2p13.2 | . | rs746315830 | . | . | . | . | . | . | 0.005 | N | 1 | A | . | . | . | . | . | . | . | 12.550 | 39 | 0.998 | 0.733 | D | . | . | . | . | 0.507 | 0 | 4.96 | 0.871 | 0.935 | 0.998 | 0.996 | 13.678 | Deleterious (FATHMM) |
| 238 | 2 | 71526295 | C | T | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71526295 | 71526295 | C | T | exonic | DYSF | . | stopgain | DYSF:NM_001130455:exon12:c.C1132T:p.R378X,DYSF:NM_001130976:exon12:c.C1129T:p.R377X,DYSF:NM_001130977:exon12:c.C1129T:p.R377X,DYSF:NM_001130978:exon12:c.C1129T:p.R377X,DYSF:NM_001130983:exon12:c.C1132T:p.R378X,DYSF:NM_001130984:exon12:c.C1132T:p.R378X,DYSF:NM_001130986:exon12:c.C1132T:p.R378X,DYSF:NM_003494:exon12:c.C1129T:p.R377X,DYSF:NM_001130979:exon13:c.C1222T:p.R408X,DYSF:NM_001130980:exon13:c.C1222T:p.R408X,DYSF:NM_001130981:exon13:c.C1222T:p.R408X,DYSF:NM_001130982:exon13:c.C1225T:p.R409X,DYSF:NM_001130985:exon13:c.C1225T:p.R409X,DYSF:NM_001130987:exon13:c.C1225T:p.R409X | 2p13.2 | . | rs758180890 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.360 | 36 | 0.998 | 0.849 | D | . | . | . | . | 0.707 | 0 | 3.53 | 0.598 | 0.059 | 0.984 | 0.972 | 12.346 | Deleterious (FATHMM) |
| 239 | 2 | 71551631 | C | T | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71551631 | 71551631 | C | T | exonic | DYSF | . | nonsynonymous SNV | DYSF:NM_001130976:exon18:c.C1621T:p.R541W,DYSF:NM_001130977:exon18:c.C1621T:p.R541W,DYSF:NM_001130984:exon18:c.C1624T:p.R542W,DYSF:NM_001130986:exon18:c.C1624T:p.R542W,DYSF:NM_001130455:exon19:c.C1666T:p.R556W,DYSF:NM_001130978:exon19:c.C1663T:p.R555W,DYSF:NM_001130980:exon19:c.C1714T:p.R572W,DYSF:NM_001130981:exon19:c.C1714T:p.R572W,DYSF:NM_001130983:exon19:c.C1666T:p.R556W,DYSF:NM_001130985:exon19:c.C1717T:p.R573W,DYSF:NM_001130987:exon19:c.C1717T:p.R573W,DYSF:NM_003494:exon19:c.C1663T:p.R555W,DYSF:NM_001130979:exon20:c.C1756T:p.R586W,DYSF:NM_001130982:exon20:c.C1759T:p.R587W | 2p13.2 | 7.7e-05 | rs377735262 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.04 | M | -3.04 | D | -7.22 | D | 0.985 | 7.847 | 35 | 0.999 | 0.903 | D | 0.999 | D | 0.902 | D | 0.707 | 0 | 4.57 | -0.022 | -0.035 | 0.876 | 0.942 | 12.975 | Deleterious |
| 240 | 2 | 71553092 | C | T | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71553092 | 71553092 | C | T | exonic | DYSF | . | stopgain | DYSF:NM_001130976:exon19:c.C1792T:p.Q598X,DYSF:NM_001130977:exon19:c.C1792T:p.Q598X,DYSF:NM_001130984:exon19:c.C1795T:p.Q599X,DYSF:NM_001130986:exon19:c.C1795T:p.Q599X,DYSF:NM_001130455:exon20:c.C1837T:p.Q613X,DYSF:NM_001130978:exon20:c.C1834T:p.Q612X,DYSF:NM_001130980:exon20:c.C1885T:p.Q629X,DYSF:NM_001130981:exon20:c.C1885T:p.Q629X,DYSF:NM_001130983:exon20:c.C1837T:p.Q613X,DYSF:NM_001130985:exon20:c.C1888T:p.Q630X,DYSF:NM_001130987:exon20:c.C1888T:p.Q630X,DYSF:NM_003494:exon20:c.C1834T:p.Q612X,DYSF:NM_001130979:exon21:c.C1927T:p.Q643X,DYSF:NM_001130982:exon21:c.C1930T:p.Q644X | 2p13.2 | . | rs746873768 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.774 | 43 | 0.999 | 0.977 | D | . | . | . | . | 0.707 | 0 | 5.3 | 0.871 | 0.935 | 1.000 | 0.999 | 16.475 | Deleterious (FATHMM) |
| 241 | 2 | 71553110 | G | C | Pathogenic/Likely pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71553110 | 71553110 | G | C | exonic | DYSF | . | nonsynonymous SNV | DYSF:NM_001130976:exon19:c.G1810C:p.G604R,DYSF:NM_001130977:exon19:c.G1810C:p.G604R,DYSF:NM_001130984:exon19:c.G1813C:p.G605R,DYSF:NM_001130986:exon19:c.G1813C:p.G605R,DYSF:NM_001130455:exon20:c.G1855C:p.G619R,DYSF:NM_001130978:exon20:c.G1852C:p.G618R,DYSF:NM_001130980:exon20:c.G1903C:p.G635R,DYSF:NM_001130981:exon20:c.G1903C:p.G635R,DYSF:NM_001130983:exon20:c.G1855C:p.G619R,DYSF:NM_001130985:exon20:c.G1906C:p.G636R,DYSF:NM_001130987:exon20:c.G1906C:p.G636R,DYSF:NM_003494:exon20:c.G1852C:p.G618R,DYSF:NM_001130979:exon21:c.G1945C:p.G649R,DYSF:NM_001130982:exon21:c.G1948C:p.G650R | 2p13.2 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.055 | M | -3.54 | D | -7.19 | D | 0.992 | 7.069 | 33 | 0.999 | 0.990 | D | 1.047 | D | 0.924 | D | 0.707 | 0 | 5.3 | 0.917 | 1.048 | 1.000 | 0.945 | 16.475 | Deleterious |
| 242 | 2 | 71568083 | G | A | Pathogenic/Likely pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71568083 | 71568083 | G | A | splicing | DYSF | NM_001130979:exon26:c.2736+1G>A,NM_001130976:exon24:c.2601+1G>A,NM_003494:exon25:c.2643+1G>A,NM_001130978:exon25:c.2643+1G>A,NM_001130981:exon25:c.2694+1G>A,NM_001130980:exon25:c.2694+1G>A,NM_001130977:exon24:c.2601+1G>A,NM_001130983:exon25:c.2646+1G>A,NM_001130982:exon26:c.2739+1G>A,NM_001130455:exon25:c.2646+1G>A,NM_001130986:exon24:c.2604+1G>A,NM_001130985:exon25:c.2697+1G>A,NM_001130987:exon25:c.2697+1G>A,NM_001130984:exon24:c.2604+1G>A | . | . | 2p13.2 | 0.0006 | rs140108514 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.590 | 26.5 | 0.995 | 0.992 | D | . | . | . | . | 0.156 | 0 | 4.94 | 0.917 | 1.038 | 0.985 | 0.980 | 15.669 | Deleterious (FATHMM) |
| 243 | 2 | 71570679 | C | T | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71570679 | 71570679 | C | T | exonic | DYSF | . | stopgain | DYSF:NM_001130976:exon28:c.C3070T:p.R1024X,DYSF:NM_001130977:exon28:c.C3070T:p.R1024X,DYSF:NM_001130984:exon28:c.C3073T:p.R1025X,DYSF:NM_001130986:exon28:c.C3073T:p.R1025X,DYSF:NM_001130455:exon29:c.C3115T:p.R1039X,DYSF:NM_001130978:exon29:c.C3112T:p.R1038X,DYSF:NM_001130980:exon29:c.C3163T:p.R1055X,DYSF:NM_001130981:exon29:c.C3163T:p.R1055X,DYSF:NM_001130983:exon29:c.C3115T:p.R1039X,DYSF:NM_001130985:exon29:c.C3166T:p.R1056X,DYSF:NM_001130987:exon29:c.C3166T:p.R1056X,DYSF:NM_003494:exon29:c.C3112T:p.R1038X,DYSF:NM_001130979:exon30:c.C3205T:p.R1069X,DYSF:NM_001130982:exon30:c.C3208T:p.R1070X | 2p13.2 | . | rs369607332 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.315 | 39 | 0.998 | 0.770 | D | . | . | . | . | 0.707 | 0 | 2.05 | -0.022 | -0.035 | 0.836 | 0.964 | 3.634 | Deleterious (FATHMM) |
| 244 | 2 | 71590212 | T | A | Pathogenic/Likely pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71590212 | 71590212 | T | A | exonic | DYSF | . | stopgain | DYSF:NM_001130976:exon31:c.T3402A:p.Y1134X,DYSF:NM_001130977:exon31:c.T3402A:p.Y1134X,DYSF:NM_001130984:exon31:c.T3405A:p.Y1135X,DYSF:NM_001130986:exon31:c.T3405A:p.Y1135X,DYSF:NM_001130455:exon32:c.T3447A:p.Y1149X,DYSF:NM_001130978:exon32:c.T3444A:p.Y1148X,DYSF:NM_001130980:exon32:c.T3495A:p.Y1165X,DYSF:NM_001130981:exon32:c.T3495A:p.Y1165X,DYSF:NM_001130983:exon32:c.T3447A:p.Y1149X,DYSF:NM_001130985:exon32:c.T3498A:p.Y1166X,DYSF:NM_001130987:exon32:c.T3498A:p.Y1166X,DYSF:NM_003494:exon32:c.T3444A:p.Y1148X,DYSF:NM_001130979:exon33:c.T3537A:p.Y1179X,DYSF:NM_001130982:exon33:c.T3540A:p.Y1180X | 2p13.2 | . | rs758944159 | . | . | . | . | . | . | 0.002 | N | 1 | A | . | . | . | . | . | . | . | 10.025 | 36 | 0.991 | 0.750 | D | . | . | . | . | 0.707 | 0 | -5.01 | 0.991 | 0.964 | 0.995 | 0.994 | 13.129 | Deleterious (FATHMM) |
| 245 | 2 | 71612726 | G | A | Pathogenic/Likely pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71612726 | 71612726 | G | A | exonic | DYSF | . | nonsynonymous SNV | DYSF:NM_001130976:exon38:c.G4211A:p.G1404D,DYSF:NM_001130977:exon38:c.G4211A:p.G1404D,DYSF:NM_001130984:exon38:c.G4214A:p.G1405D,DYSF:NM_001130986:exon38:c.G4214A:p.G1405D,DYSF:NM_001130455:exon39:c.G4256A:p.G1419D,DYSF:NM_001130978:exon39:c.G4253A:p.G1418D,DYSF:NM_001130980:exon39:c.G4304A:p.G1435D,DYSF:NM_001130981:exon39:c.G4304A:p.G1435D,DYSF:NM_001130983:exon39:c.G4256A:p.G1419D,DYSF:NM_001130985:exon39:c.G4307A:p.G1436D,DYSF:NM_001130987:exon39:c.G4307A:p.G1436D,DYSF:NM_003494:exon39:c.G4253A:p.G1418D,DYSF:NM_001130979:exon40:c.G4346A:p.G1449D,DYSF:NM_001130982:exon40:c.G4349A:p.G1450D | 2p13.2 | . | rs398123787 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.47 | M | -3.89 | D | -6.39 | D | 0.956 | 5.952 | 27.7 | 0.998 | 0.978 | D | 1.092 | D | 0.945 | D | 0.707 | 0 | 5.52 | 0.917 | 1.048 | 1.000 | 1.000 | 16.916 | Deleterious |
| 246 | 2 | 71665181 | C | T | Pathogenic/Likely pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71665181 | 71665181 | C | T | exonic | DYSF | . | nonsynonymous SNV | DYSF:NM_001130976:exon45:c.C5035T:p.R1679W,DYSF:NM_001130986:exon45:c.C5038T:p.R1680W,DYSF:NM_001130455:exon46:c.C5080T:p.R1694W,DYSF:NM_001130977:exon46:c.C5098T:p.R1700W,DYSF:NM_001130980:exon46:c.C5128T:p.R1710W,DYSF:NM_001130984:exon46:c.C5101T:p.R1701W,DYSF:NM_001130985:exon46:c.C5131T:p.R1711W,DYSF:NM_003494:exon46:c.C5077T:p.R1693W,DYSF:NM_001130978:exon47:c.C5140T:p.R1714W,DYSF:NM_001130979:exon47:c.C5170T:p.R1724W,DYSF:NM_001130981:exon47:c.C5191T:p.R1731W,DYSF:NM_001130982:exon47:c.C5173T:p.R1725W,DYSF:NM_001130983:exon47:c.C5143T:p.R1715W,DYSF:NM_001130987:exon47:c.C5194T:p.R1732W | 2p13.2 | . | rs863225021 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.43 | M | -2.3 | D | -7.26 | D | 0.963 | 7.063 | 33 | 0.998 | 0.317 | N | 0.780 | D | 0.845 | D | 0.707 | 0 | -4.46 | 0.067 | -0.817 | 0.997 | 0.992 | 19.749 | Deleterious |
| 247 | 2 | 71668842 | G | A | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71668842 | 71668842 | G | A | exonic | DYSF | . | nonsynonymous SNV | DYSF:NM_001130976:exon47:c.G5387A:p.R1796K,DYSF:NM_001130986:exon47:c.G5390A:p.R1797K,DYSF:NM_001130455:exon48:c.G5432A:p.R1811K,DYSF:NM_001130977:exon48:c.G5450A:p.R1817K,DYSF:NM_001130980:exon48:c.G5480A:p.R1827K,DYSF:NM_001130984:exon48:c.G5453A:p.R1818K,DYSF:NM_001130985:exon48:c.G5483A:p.R1828K,DYSF:NM_003494:exon48:c.G5429A:p.R1810K,DYSF:NM_001130978:exon49:c.G5492A:p.R1831K,DYSF:NM_001130979:exon49:c.G5522A:p.R1841K,DYSF:NM_001130981:exon49:c.G5543A:p.R1848K,DYSF:NM_001130982:exon49:c.G5525A:p.R1842K,DYSF:NM_001130983:exon49:c.G5495A:p.R1832K,DYSF:NM_001130987:exon49:c.G5546A:p.R1849K | 2p13.2 | . | rs786205084 | 0.939 | T | 0.15 | B | 0.075 | B | 0.000 | D | 0.999 | D | 0.295 | N | -2.0 | D | 0.08 | N | 0.079 | 1.424 | 12.91 | 0.925 | 0.897 | D | -0.570 | T | 0.331 | T | 0.707 | 0 | 4.87 | 0.917 | 0.953 | 0.650 | 0.965 | 15.542 | Tolerated |
| 248 | 2 | 71682597 | C | T | Pathogenic | DYSF | . | . | . | . | . | . | . | . | . | . | 2 | 71682597 | 71682597 | C | T | exonic | DYSF | . | nonsynonymous SNV | DYSF:NM_001130976:exon53:c.C6082T:p.R2028C,DYSF:NM_001130986:exon53:c.C6085T:p.R2029C,DYSF:NM_001130455:exon54:c.C6127T:p.R2043C,DYSF:NM_001130977:exon54:c.C6145T:p.R2049C,DYSF:NM_001130980:exon54:c.C6175T:p.R2059C,DYSF:NM_001130984:exon54:c.C6148T:p.R2050C,DYSF:NM_001130985:exon54:c.C6178T:p.R2060C,DYSF:NM_003494:exon54:c.C6124T:p.R2042C,DYSF:NM_001130978:exon55:c.C6187T:p.R2063C,DYSF:NM_001130979:exon55:c.C6217T:p.R2073C,DYSF:NM_001130981:exon55:c.C6238T:p.R2080C,DYSF:NM_001130982:exon55:c.C6220T:p.R2074C,DYSF:NM_001130983:exon55:c.C6190T:p.R2064C,DYSF:NM_001130987:exon55:c.C6241T:p.R2081C | 2p13.2 | . | rs121908955 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | A | 2.685 | M | -1.78 | D | -5.77 | D | 0.913 | 7.776 | 35 | 0.999 | 0.958 | D | 0.654 | D | 0.698 | D | 0.707 | 0 | 3.16 | -0.058 | 0.935 | 0.844 | 0.997 | 11.550 | Deleterious |
| 249 | 2 | 73913565 | C | T | Pathogenic | ACTG2 | . | . | . | . | . | . | . | . | . | . | 2 | 73913565 | 73913565 | C | T | exonic | ACTG2 | . | nonsynonymous SNV | ACTG2:NM_001199893:exon5:c.C403T:p.R135C,ACTG2:NM_001615:exon6:c.C532T:p.R178C | 2p13.1 | . | rs78001248 | . | . | 0.832 | P | 0.293 | B | 0.000 | D | 1 | D | 4.53 | H | -3.62 | D | -6.3 | D | 0.956 | 6.220 | 28.8 | 0.999 | 0.981 | D | 1.065 | D | 0.900 | D | 0.706 | 0 | 4.94 | 0.871 | 0.932 | 0.998 | 1.000 | 17.448 | Deleterious |
| 250 | 2 | 73913566 | G | A | Pathogenic | ACTG2 | . | . | . | . | . | . | . | . | . | . | 2 | 73913566 | 73913566 | G | A | exonic | ACTG2 | . | nonsynonymous SNV | ACTG2:NM_001199893:exon5:c.G404A:p.R135H,ACTG2:NM_001615:exon6:c.G533A:p.R178H | 2p13.1 | . | rs587777384 | . | . | 0.672 | P | 0.293 | B | 0.000 | D | 1.000 | D | 2.95 | M | -3.57 | D | -3.87 | D | 0.926 | 4.440 | 24.2 | 0.999 | 0.989 | D | 0.921 | D | 0.849 | D | 0.706 | 0 | 4.94 | 0.917 | 1.045 | 0.996 | 1.000 | 17.448 | Deleterious |
| 251 | 2 | 73914835 | C | T | Pathogenic | ACTG2 | . | . | . | . | . | . | . | . | . | . | 2 | 73914835 | 73914835 | C | T | exonic | ACTG2 | . | nonsynonymous SNV | ACTG2:NM_001199893:exon6:c.C640T:p.R214C,ACTG2:NM_001615:exon7:c.C769T:p.R257C | 2p13.1 | . | rs587777387 | . | . | 1.0 | D | 0.992 | D | 0.000 | D | 1 | D | 4.03 | H | -3.58 | D | -6.18 | D | 0.965 | 6.364 | 29.4 | 0.999 | 0.976 | D | 1.094 | D | 0.944 | D | 0.706 | 0 | 4.71 | 0.871 | 0.932 | 1.000 | 1.000 | 16.948 | Deleterious |
| 252 | 2 | 98370077 | G | A | Pathogenic/Likely pathogenic | CNGA3 | . | . | . | . | . | . | . | . | . | . | 2 | 98370077 | 98370077 | G | A | splicing | CNGA3 | NM_001079878:exon2:c.101+1G>A,NM_001298:exon2:c.101+1G>A | . | . | 2q11.2 | 0.0006 | rs147118493 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.739 | 23.3 | 0.986 | 0.930 | D | . | . | . | . | 0.061 | 0 | 4.2 | 0.917 | 1.048 | 0.957 | 0.955 | 12.252 | Deleterious (FATHMM) |
| 253 | 2 | 108896995 | G | A | Pathogenic/Likely pathogenic | RANBP2|EDAR | . | . | . | . | . | . | . | . | . | . | 2 | 108896995 | 108896995 | G | A | exonic | EDAR | . | nonsynonymous SNV | EDAR:NM_022336:exon12:c.G1259T:p.R420L | 2q13 | . | . | 0.047 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 0.55 | N | -2.08 | D | -1.66 | N | 0.966 | 7.760 | 35 | 0.998 | 0.982 | D | 0.122 | D | 0.645 | D | 0.487 | 0 | 5.49 | 0.871 | 0.064 | 0.997 | 0.997 | 19.382 | Deleterious |
| 254 | 2 | 108897110 | G | A | Pathogenic | RANBP2|EDAR | . | . | . | . | . | . | . | . | . | . | 2 | 108897110 | 108897110 | G | A | exonic | EDAR | . | nonsynonymous SNV | EDAR:NM_022336:exon12:c.G1144T:p.G382C | 2q13 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 0.55 | N | -2.53 | D | -2.86 | D | 0.86 | 7.205 | 34 | 0.998 | 0.984 | D | 0.589 | D | 0.715 | D | 0.487 | 0 | 5.64 | 0.871 | 0.935 | 1.000 | 0.927 | 19.721 | Deleterious |
| 255 | 2 | 144398426 | C | T | Pathogenic | ZEB2 | . | . | . | . | . | . | . | . | . | . | 2 | 144398426 | 144398426 | C | T | exonic | ZEB2 | . | synonymous SNV | ZEB2:NM_001171653:exon7:c.C2689A:p.R897R,ZEB2:NM_014795:exon8:c.C2761A:p.R921R | 2q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 256 | 2 | 144399104 | C | T | Pathogenic | ZEB2 | . | . | . | . | . | . | . | . | . | . | 2 | 144399104 | 144399104 | C | T | exonic | ZEB2 | . | synonymous SNV | ZEB2:NM_001171653:exon7:c.C2011A:p.R671R,ZEB2:NM_014795:exon8:c.C2083A:p.R695R | 2q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 257 | 2 | 144400085 | C | T | Pathogenic | ZEB2 | . | . | . | . | . | . | . | . | . | . | 2 | 144400085 | 144400085 | C | T | exonic | ZEB2 | . | nonsynonymous SNV | ZEB2:NM_001171653:exon7:c.C1030A:p.Q344K,ZEB2:NM_014795:exon8:c.C1102A:p.Q368K | 2q22.3 | . | . | 0.003 | D | 0.998 | D | 0.997 | D | 0.000 | D | 1 | D | 1.79 | L | 2.45 | T | -1.53 | N | 0.848 | 4.771 | 24.7 | 0.994 | 0.974 | D | -1.061 | T | 0.118 | T | 0.707 | 0 | 5.64 | 0.917 | 1.048 | 0.985 | 1.000 | 19.716 | Tolerated |
| 258 | 2 | 144400160 | C | T | Pathogenic | ZEB2 | . | . | . | . | . | . | . | . | . | . | 2 | 144400160 | 144400160 | C | T | exonic | ZEB2 | . | synonymous SNV | ZEB2:NM_001171653:exon7:c.C955A:p.R319R,ZEB2:NM_014795:exon8:c.C1027A:p.R343R | 2q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 259 | 2 | 144401211 | C | T | Pathogenic | ZEB2 | . | . | . | . | . | . | . | . | . | . | 2 | 144401211 | 144401211 | C | T | exonic | ZEB2 | . | synonymous SNV | ZEB2:NM_001171653:exon6:c.C832A:p.R278R,ZEB2:NM_014795:exon7:c.C904A:p.R302R | 2q22.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 260 | 2 | 144404049 | C | A | Pathogenic | ZEB2 | . | . | . | . | . | . | . | . | . | . | 2 | 144404049 | 144404049 | C | A | exonic | ZEB2 | . | nonsynonymous SNV | ZEB2:NM_001171653:exon5:c.C602T:p.S201L,ZEB2:NM_014795:exon6:c.C674T:p.S225L | 2q22.3 | . | . | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 1.115 | L | 1.63 | T | -4.14 | D | 0.889 | 6.303 | 29.1 | 0.999 | 0.962 | D | -0.907 | T | 0.155 | T | 0.719 | 0 | 5.65 | 0.917 | 0.953 | 0.998 | 0.999 | 19.733 | Tolerated |
| 261 | 2 | 147952440 | A | G | Pathogenic/Likely pathogenic | ORC4 | . | . | . | . | . | . | . | . | . | . | 2 | 147952440 | 147952440 | A | G | exonic | ORC4 | . | nonsynonymous SNV | ORC4:NM_001190881:exon5:c.A269C:p.Y90S,ORC4:NM_001190882:exon7:c.A299C:p.Y100S,ORC4:NM_002552:exon8:c.A521C:p.Y174S,ORC4:NM_181741:exon8:c.A521C:p.Y174S,ORC4:NM_181742:exon8:c.A521C:p.Y174S,ORC4:NM_001190879:exon9:c.A521C:p.Y174S | 2q23.1 | . | . | 0.0 | D | 0.995 | D | 0.963 | D | 0.000 | D | 1 | D | 2.785 | M | 0.48 | T | -8.98 | D | 0.973 | 6.478 | 30 | 0.992 | 0.967 | D | 1.001 | D | 0.896 | D | 0.732 | 0 | 5.85 | 0.991 | 1.011 | 1.000 | 0.999 | 16.231 | Deleterious |
| 262 | 2 | 148947018 | G | A | Pathogenic | KIF5C | . | . | . | . | . | . | . | . | . | . | 2 | 148947018 | 148947018 | G | A | exonic | KIF5C | . | nonsynonymous SNV | KIF5C:NM_004522:exon8:c.G709A:p.E237K | 2q23.1 | . | rs587777570 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | . | . | -1.85 | D | -3.68 | D | 0.977 | 7.430 | 34 | 0.999 | 0.996 | D | 0.651 | D | 0.775 | D | 0.732 | 0 | 5.34 | 0.917 | 1.048 | 0.998 | 0.995 | 19.595 | Deleterious |
| 263 | 2 | 151551738 | G | A | Pathogenic | NEB | . | . | . | . | . | . | . | . | . | . | 2 | 151551738 | 151551738 | G | A | exonic | NEB | . | synonymous SNV | NEB:NM_004543:exon101:c.G14805T:p.S4935S,NEB:NM_001164507:exon129:c.G19944T:p.S6648S,NEB:NM_001164508:exon129:c.G19944T:p.S6648S,NEB:NM_001271208:exon129:c.G19944T:p.S6648S | 2q23.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 264 | 2 | 165310413 | C | T | Pathogenic | SCN2A | . | . | . | . | . | . | . | . | . | . | 2 | 165310413 | 165310413 | C | T | exonic | SCN2A | . | nonsynonymous SNV | SCN2A:NM_001040143:exon6:c.C788T:p.A263V,SCN2A:NM_001040142:exon7:c.C788T:p.A263V,SCN2A:NM_021007:exon7:c.C788T:p.A263V | 2q24.3 | . | rs387906686 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.345 | H | -4.95 | D | -3.91 | D | 0.987 | 6.276 | 29.0 | 0.999 | 0.980 | D | 1.035 | D | 0.982 | D | 0.554 | 0 | 5.27 | 0.871 | 0.935 | 0.978 | 0.859 | 19.241 | Deleterious |
| 265 | 2 | 165342465 | G | A | Pathogenic/Likely pathogenic | SCN2A | . | . | . | . | . | . | . | . | . | . | 2 | 165342465 | 165342465 | G | A | exonic | SCN2A | . | nonsynonymous SNV | SCN2A:NM_001040143:exon14:c.G2558A:p.R853Q,SCN2A:NM_001040142:exon15:c.G2558A:p.R853Q,SCN2A:NM_021007:exon15:c.G2558A:p.R853Q | 2q24.3 | . | rs794727152 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.515 | H | -5.12 | D | -3.65 | D | 0.919 | 7.468 | 34 | 1.000 | 0.997 | D | 1.065 | D | 0.980 | D | 0.487 | 0 | 5.48 | 0.917 | 1.048 | 0.988 | 0.999 | 19.334 | Deleterious |
| 266 | 2 | 165354232 | G | T | Pathogenic/Likely pathogenic | SCN2A | . | . | . | . | . | . | . | . | . | . | 2 | 165354232 | 165354232 | G | T | exonic | SCN2A | . | nonsynonymous SNV | SCN2A:NM_001040143:exon16:c.G2960T:p.S987I,SCN2A:NM_001040142:exon17:c.G2960T:p.S987I,SCN2A:NM_021007:exon17:c.G2960T:p.S987I | 2q24.3 | . | rs796053124 | 0.0 | D | 0.975 | D | 0.805 | P | 0.000 | D | 1.000 | D | 3.925 | H | -4.52 | D | -5.73 | D | 0.718 | 5.585 | 26.5 | 0.996 | 0.992 | D | 1.082 | D | 0.964 | D | 0.487 | 0 | 4.81 | 0.917 | 0.127 | 0.995 | 0.995 | 14.821 | Deleterious |
| 267 | 2 | 165367327 | G | A | Pathogenic/Likely pathogenic | SCN2A | . | . | . | . | . | . | . | . | . | . | 2 | 165367327 | 165367327 | G | A | exonic | SCN2A | . | nonsynonymous SNV | SCN2A:NM_001040143:exon18:c.G3631A:p.E1211K,SCN2A:NM_001040142:exon19:c.G3631A:p.E1211K,SCN2A:NM_021007:exon19:c.G3631A:p.E1211K | 2q24.3 | . | rs387906684 | 0.0 | D | 0.999 | D | 0.936 | D | 0.000 | D | 1 | D | 2.795 | M | -3.46 | D | -3.82 | D | 0.973 | 7.622 | 34 | 0.999 | 0.993 | D | 1.004 | D | 0.919 | D | 0.487 | 0 | 6.07 | 0.917 | 1.048 | 1.000 | 1.000 | 20.659 | Deleterious |
| 268 | 2 | 165388683 | G | A | Pathogenic | SCN2A | . | . | . | . | . | . | . | . | . | . | 2 | 165388683 | 165388683 | G | A | exonic | SCN2A | . | nonsynonymous SNV | SCN2A:NM_001040143:exon26:c.G4877A:p.R1626Q,SCN2A:NM_001040142:exon27:c.G4877A:p.R1626Q,SCN2A:NM_021007:exon27:c.G4877A:p.R1626Q | 2q24.3 | . | rs796053155 | 0.0 | D | 0.999 | D | 0.998 | D | 0.000 | D | 1.000 | D | 3.53 | H | -4.67 | D | -3.48 | D | 0.953 | 5.403 | 26.0 | 0.999 | 0.992 | D | 1.087 | D | 0.971 | D | 0.487 | 0 | 5.49 | 0.917 | 1.048 | 0.999 | 0.998 | 19.803 | Deleterious |
| 269 | 2 | 165389451 | G | A | Pathogenic/Likely pathogenic | SCN2A | . | . | . | . | . | . | . | . | . | . | 2 | 165389451 | 165389451 | G | A | exonic | SCN2A | . | nonsynonymous SNV | SCN2A:NM_001040143:exon26:c.G5645A:p.R1882Q,SCN2A:NM_001040142:exon27:c.G5645A:p.R1882Q,SCN2A:NM_021007:exon27:c.G5645A:p.R1882Q | 2q24.3 | . | rs794727444 | 0.001 | D | 0.994 | D | 0.986 | D | 0.000 | D | 1.000 | D | 2.5 | M | -3.92 | D | -3.12 | D | 0.811 | 6.414 | 29.7 | 0.999 | 0.997 | D | 1.041 | D | 0.928 | D | 0.554 | 0 | 5.53 | 0.866 | 0.998 | 0.998 | 0.971 | 19.885 | Deleterious |
| 270 | 2 | 165991601 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165991601 | 165991601 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon26:c.C5674A:p.R1892R,SCN1A:NM_001165964:exon26:c.C5590A:p.R1864R,SCN1A:NM_006920:exon26:c.C5641A:p.R1881R,SCN1A:NM_001202435:exon28:c.C5674A:p.R1892R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 271 | 2 | 165991619 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165991619 | 165991619 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon26:c.C5656A:p.R1886R,SCN1A:NM_001165964:exon26:c.C5572A:p.R1858R,SCN1A:NM_006920:exon26:c.C5623A:p.R1875R,SCN1A:NM_001202435:exon28:c.C5656A:p.R1886R | 2q24.3 | . | rs779614747 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 272 | 2 | 165991927 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165991927 | 165991927 | C | T | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon26:c.C5348A:p.A1783E,SCN1A:NM_001165964:exon26:c.C5264A:p.A1755E,SCN1A:NM_006920:exon26:c.C5315A:p.A1772E,SCN1A:NM_001202435:exon28:c.C5348A:p.A1783E | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.37 | H | -5.65 | D | -4.6 | D | 0.985 | 6.314 | 29.2 | 0.993 | 0.996 | D | 0.980 | D | 0.990 | D | 0.487 | 0 | 5.69 | 0.917 | 1.048 | 0.999 | 0.665 | 19.823 | Deleterious |
| 273 | 2 | 165991928 | G | A | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165991928 | 165991928 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon26:c.G5347T:p.A1783S,SCN1A:NM_001165964:exon26:c.G5263T:p.A1755S,SCN1A:NM_006920:exon26:c.G5314T:p.A1772S,SCN1A:NM_001202435:exon28:c.G5347T:p.A1783S | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.565 | H | -5.62 | D | -2.76 | D | 0.84 | 6.569 | 31 | 0.998 | 0.993 | D | 1.034 | D | 0.986 | D | 0.487 | 0 | 5.69 | 0.871 | 0.935 | 0.999 | 0.668 | 19.823 | Deleterious |
| 274 | 2 | 165992053 | G | A | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165992053 | 165992053 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon26:c.G5222T:p.C1741F,SCN1A:NM_001165964:exon26:c.G5138T:p.C1713F,SCN1A:NM_006920:exon26:c.G5189T:p.C1730F,SCN1A:NM_001202435:exon28:c.G5222T:p.C1741F | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.9 | H | -4.63 | D | -10.13 | D | 0.983 | 6.702 | 32 | 0.992 | 0.996 | D | 1.074 | D | 0.975 | D | 0.487 | 0 | 5.69 | 0.871 | 0.876 | 0.999 | 0.983 | 19.823 | Deleterious |
| 275 | 2 | 165992368 | G | A | Pathogenic/Likely pathogenic, not provided | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165992368 | 165992368 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon26:c.G4907T:p.R1636L,SCN1A:NM_001165964:exon26:c.G4823T:p.R1608L,SCN1A:NM_006920:exon26:c.G4874T:p.R1625L,SCN1A:NM_001202435:exon28:c.G4907T:p.R1636L | 2q24.3 | . | . | 0.008 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.6 | H | -4.68 | D | -6.09 | D | 0.963 | 7.402 | 34 | 0.998 | 0.995 | D | 1.090 | D | 0.970 | D | 0.487 | 0 | 5.27 | 0.871 | 0.935 | 0.999 | 1.000 | 18.899 | Deleterious |
| 276 | 2 | 165992369 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165992369 | 165992369 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon26:c.C4906A:p.R1636R,SCN1A:NM_001165964:exon26:c.C4822A:p.R1608R,SCN1A:NM_006920:exon26:c.C4873A:p.R1625R,SCN1A:NM_001202435:exon28:c.C4906A:p.R1636R | 2q24.3 | 0.0002 | rs199727342 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 277 | 2 | 165996021 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165996021 | 165996021 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon24:c.C4573A:p.R1525R,SCN1A:NM_001165964:exon24:c.C4489A:p.R1497R,SCN1A:NM_006920:exon24:c.C4540A:p.R1514R,SCN1A:NM_001202435:exon26:c.C4573A:p.R1525R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 278 | 2 | 165996045 | A | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165996045 | 165996045 | A | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon24:c.A4549A:p.K1517K,SCN1A:NM_001165964:exon24:c.A4465A:p.K1489K,SCN1A:NM_006920:exon24:c.A4516A:p.K1506K,SCN1A:NM_001202435:exon26:c.A4549A:p.K1517K | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 279 | 2 | 165998037 | A | G | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 165998037 | 165998037 | A | G | splicing | SCN1A | NM_001165964:exon23:c.4392+1T>C,NM_006920:exon23:c.4443+1T>C,NM_001165963:exon23:c.4476+1T>C,NM_001202435:exon25:c.4476+1T>C | . | . | 2q24.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.126 | 25.4 | 0.994 | 0.981 | D | . | . | . | . | 0.061 | 0 | 5.15 | 0.970 | 1.009 | 0.999 | 1.000 | 14.958 | Deleterious (FATHMM) |
| 280 | 2 | 166002588 | G | A | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 166002588 | 166002588 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon21:c.G4168T:p.V1390L,SCN1A:NM_001165964:exon21:c.G4084T:p.V1362L,SCN1A:NM_006920:exon21:c.G4135T:p.V1379L,SCN1A:NM_001202435:exon23:c.G4168T:p.V1390L | 2q24.3 | . | . | 0.001 | D | 0.067 | B | 0.096 | B | 0.004 | N | 1.000 | D | 2.715 | M | -4.02 | D | -2.44 | N | 0.875 | 4.860 | 24.9 | 0.976 | 0.963 | D | 0.764 | D | 0.879 | D | 0.487 | 0 | 5.54 | 0.871 | 0.892 | 0.836 | 0.940 | 13.560 | Deleterious |
| 281 | 2 | 166009736 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 166009736 | 166009736 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon20:c.C3985A:p.R1329R,SCN1A:NM_001165964:exon20:c.C3901A:p.R1301R,SCN1A:NM_006920:exon20:c.C3952A:p.R1318R,SCN1A:NM_001202435:exon22:c.C3985A:p.R1329R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 282 | 2 | 166012210 | A | C | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 166012210 | 166012210 | A | C | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon19:c.A3778G:p.T1260A,SCN1A:NM_001165964:exon19:c.A3694G:p.T1232A,SCN1A:NM_006920:exon19:c.A3745G:p.T1249A,SCN1A:NM_001202435:exon21:c.A3778G:p.T1260A | 2q24.3 | . | . | 0.001 | D | 0.997 | D | 0.992 | D | 0.000 | D | 1 | D | 2.315 | M | -5.15 | D | -4.43 | D | 0.906 | 5.618 | 26.6 | 0.998 | 0.919 | D | 1.108 | D | 0.965 | D | 0.487 | 0 | 5.5 | 0.991 | 1.061 | 1.000 | 0.999 | 15.592 | Deleterious |
| 283 | 2 | 166012255 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 166012255 | 166012255 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon19:c.C3733A:p.R1245R,SCN1A:NM_001165964:exon19:c.C3649A:p.R1217R,SCN1A:NM_006920:exon19:c.C3700A:p.R1234R,SCN1A:NM_001202435:exon21:c.C3733A:p.R1245R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 284 | 2 | 166013812 | C | T | Pathogenic | SCN1A|LOC102724058 | . | . | . | . | . | . | . | . | . | . | 2 | 166013812 | 166013812 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon18:c.C3637A:p.R1213R,SCN1A:NM_001165964:exon18:c.C3553A:p.R1185R,SCN1A:NM_006920:exon18:c.C3604A:p.R1202R,SCN1A:NM_001202435:exon20:c.C3637A:p.R1213R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 285 | 2 | 166037775 | G | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037775 | 166037775 | G | T | splicing | SCN1A | NM_001165964:exon15:c.2862+1C>A,NM_006920:exon15:c.2913+1C>A,NM_001165963:exon15:c.2946+1C>A,NM_001202435:exon17:c.2946+1C>A | . | . | 2q24.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.639 | 26.6 | 0.995 | 0.986 | D | . | . | . | . | 0.054 | 0 | 5.18 | 0.871 | 0.892 | 0.998 | 1.000 | 19.049 | Deleterious (FATHMM) |
| 286 | 2 | 166037846 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037846 | 166037846 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon15:c.G2876T:p.C959F,SCN1A:NM_001165964:exon15:c.G2792T:p.C931F,SCN1A:NM_006920:exon15:c.G2843T:p.C948F,SCN1A:NM_001202435:exon17:c.G2876T:p.C959F | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.335 | M | -4.44 | D | -10.65 | D | 0.975 | 6.836 | 33 | 0.992 | 0.987 | D | 1.099 | D | 0.961 | D | 0.554 | 0 | 5.18 | 0.871 | 0.892 | 0.998 | 0.995 | 19.049 | Deleterious |
| 287 | 2 | 166037885 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037885 | 166037885 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon15:c.G2837T:p.R946L,SCN1A:NM_001165964:exon15:c.G2753T:p.R918L,SCN1A:NM_006920:exon15:c.G2804T:p.R935L,SCN1A:NM_001202435:exon17:c.G2837T:p.R946L | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.515 | H | -5.16 | D | -6.77 | D | 0.954 | 7.714 | 35 | 0.998 | 0.960 | D | 1.064 | D | 0.979 | D | 0.554 | 0 | 5.18 | 0.871 | 0.892 | 0.998 | 0.997 | 19.049 | Deleterious |
| 288 | 2 | 166037886 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037886 | 166037886 | C | T | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon15:c.C2836A:p.R946S,SCN1A:NM_001165964:exon15:c.C2752A:p.R918S,SCN1A:NM_006920:exon15:c.C2803A:p.R935S,SCN1A:NM_001202435:exon17:c.C2836A:p.R946S | 2q24.3 | . | rs121918775 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1.000 | D | 3.515 | H | -5.13 | D | -5.8 | D | 0.982 | 6.867 | 33 | 0.997 | 0.947 | D | 1.064 | D | 0.979 | D | 0.554 | 0 | 5.18 | 0.917 | 0.998 | 0.999 | 0.997 | 19.049 | Deleterious |
| 289 | 2 | 166037930 | G | C | Pathogenic/Likely pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037930 | 166037930 | G | C | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon15:c.G2792G:p.R931R,SCN1A:NM_001165964:exon15:c.G2708G:p.R903R,SCN1A:NM_006920:exon15:c.G2759G:p.R920R,SCN1A:NM_001202435:exon17:c.G2792G:p.R931R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 290 | 2 | 166037930 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037930 | 166037930 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon15:c.G2792T:p.R931L,SCN1A:NM_001165964:exon15:c.G2708T:p.R903L,SCN1A:NM_006920:exon15:c.G2759T:p.R920L,SCN1A:NM_001202435:exon17:c.G2792T:p.R931L | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.425 | M | -4.97 | D | -6.77 | D | 0.941 | 7.456 | 34 | 0.998 | 0.952 | D | 1.083 | D | 0.974 | D | 0.554 | 0 | 5.18 | 0.871 | 0.892 | 0.997 | 0.980 | 19.049 | Deleterious |
| 291 | 2 | 166037931 | C | T | Pathogenic/Likely pathogenic, not provided | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166037931 | 166037931 | C | T | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon15:c.C2791A:p.R931S,SCN1A:NM_001165964:exon15:c.C2707A:p.R903S,SCN1A:NM_006920:exon15:c.C2758A:p.R920S,SCN1A:NM_001202435:exon17:c.C2791A:p.R931S | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3 | M | -4.91 | D | -5.8 | D | 0.955 | 6.848 | 33 | 0.998 | 0.938 | D | 1.098 | D | 0.970 | D | 0.554 | 0 | 5.18 | 0.917 | 0.998 | 0.996 | 0.976 | 19.049 | Deleterious |
| 292 | 2 | 166039420 | A | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166039420 | 166039420 | A | T | intronic | SCN1A | . | . | . | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 293 | 2 | 166039428 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166039428 | 166039428 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon14:c.C2584A:p.R862R,SCN1A:NM_001165964:exon14:c.C2500A:p.R834R,SCN1A:NM_006920:exon14:c.C2551A:p.R851R,SCN1A:NM_001202435:exon16:c.C2584A:p.R862R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 294 | 2 | 166039436 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166039436 | 166039436 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon14:c.G2576T:p.R859L,SCN1A:NM_001165964:exon14:c.G2492T:p.R831L,SCN1A:NM_006920:exon14:c.G2543T:p.R848L,SCN1A:NM_001202435:exon16:c.G2576T:p.R859L | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.993 | D | 0.000 | D | 1 | D | 4.44 | H | -4.93 | D | -6.43 | D | 0.974 | 8.196 | 35 | 0.999 | 0.997 | D | 1.028 | D | 0.981 | D | 0.487 | 0 | 4.75 | 0.871 | 0.852 | 0.999 | 0.996 | 18.109 | Deleterious |
| 295 | 2 | 166042334 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166042334 | 166042334 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon12:c.C2134A:p.R712R,SCN1A:NM_001165964:exon12:c.C2050A:p.R684R,SCN1A:NM_006920:exon12:c.C2101A:p.R701R,SCN1A:NM_001202435:exon14:c.C2134A:p.R712R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 296 | 2 | 166043875 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166043875 | 166043875 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon11:c.C1837A:p.R613R,SCN1A:NM_001165964:exon11:c.C1837A:p.R613R,SCN1A:NM_006920:exon11:c.C1837A:p.R613R,SCN1A:NM_001202435:exon13:c.C1837A:p.R613R | 2q24.3 | . | rs398123585 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 297 | 2 | 166043974 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166043974 | 166043974 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon11:c.C1738A:p.R580R,SCN1A:NM_001165964:exon11:c.C1738A:p.R580R,SCN1A:NM_006920:exon11:c.C1738A:p.R580R,SCN1A:NM_001202435:exon13:c.C1738A:p.R580R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 298 | 2 | 166045081 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166045081 | 166045081 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon10:c.C1624A:p.R542R,SCN1A:NM_001165964:exon10:c.C1624A:p.R542R,SCN1A:NM_006920:exon10:c.C1624A:p.R542R,SCN1A:NM_001202435:exon12:c.C1624A:p.R542R | 2q24.3 | 0.0002 | rs138877187 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 299 | 2 | 166046870 | A | G | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166046870 | 166046870 | A | G | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon9:c.A1277C:p.Y426S,SCN1A:NM_001165964:exon9:c.A1277C:p.Y426S,SCN1A:NM_006920:exon9:c.A1277C:p.Y426S,SCN1A:NM_001202435:exon11:c.A1277C:p.Y426S | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | D | 3.41 | M | -4.41 | D | -8.84 | D | 0.987 | 6.087 | 28.2 | 0.992 | 0.949 | D | 1.103 | D | 0.960 | D | 0.487 | 0 | 5.31 | 0.991 | 0.964 | 1.000 | 0.955 | 15.564 | Deleterious |
| 300 | 2 | 166046969 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166046969 | 166046969 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon9:c.G1178T:p.R393L,SCN1A:NM_001165964:exon9:c.G1178T:p.R393L,SCN1A:NM_006920:exon9:c.G1178T:p.R393L,SCN1A:NM_001202435:exon11:c.G1178T:p.R393L | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.56 | H | -5.05 | D | -6.88 | D | 0.99 | 7.934 | 35 | 0.999 | 0.988 | D | 1.066 | D | 0.980 | D | 0.487 | 0 | 5.49 | 0.871 | 0.935 | 1.000 | 0.993 | 19.744 | Deleterious |
| 301 | 2 | 166046970 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166046970 | 166046970 | C | T | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon9:c.C1177A:p.R393S,SCN1A:NM_001165964:exon9:c.C1177A:p.R393S,SCN1A:NM_006920:exon9:c.C1177A:p.R393S,SCN1A:NM_001202435:exon11:c.C1177A:p.R393S | 2q24.3 | . | rs121917929 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | D | 2.91 | M | -5.03 | D | -5.89 | D | 0.994 | 6.726 | 32 | 0.998 | 0.961 | D | 1.094 | D | 0.974 | D | 0.487 | 0 | 5.49 | 0.917 | 1.048 | 0.999 | 0.993 | 19.744 | Deleterious |
| 302 | 2 | 166047667 | G | A | Pathogenic/Likely pathogenic, not provided | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166047667 | 166047667 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon8:c.G1130T:p.R377L,SCN1A:NM_001165964:exon8:c.G1130T:p.R377L,SCN1A:NM_006920:exon8:c.G1130T:p.R377L,SCN1A:NM_001202435:exon10:c.G1130T:p.R377L | 2q24.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.76 | M | -4.09 | D | -6.88 | D | 0.978 | 7.715 | 35 | 0.999 | 0.990 | D | 1.087 | D | 0.944 | D | 0.487 | 0 | 5.22 | 0.871 | 0.935 | 1.000 | 1.000 | 19.135 | Deleterious |
| 303 | 2 | 166048950 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166048950 | 166048950 | G | A | splicing | SCN1A | NM_001165964:exon7:c.965-1C>T,NM_006920:exon7:c.965-1C>T,NM_001165963:exon7:c.965-1C>T,NM_001202435:exon9:c.965-1C>T | . | . | 2q24.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.668 | 26.7 | 0.995 | 0.994 | D | . | . | . | . | 0.127 | 0 | 5.27 | 0.871 | 0.935 | 1.000 | 0.996 | 19.259 | Deleterious (FATHMM) |
| 304 | 2 | 166051914 | T | C | Pathogenic/Likely pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166051914 | 166051914 | T | C | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon6:c.T769G:p.C257G,SCN1A:NM_001165964:exon6:c.T769G:p.C257G,SCN1A:NM_006920:exon6:c.T769G:p.C257G,SCN1A:NM_001202435:exon8:c.T769G:p.C257G | 2q24.3 | . | . | 0.001 | D | 0.999 | D | 0.997 | D | 0.000 | D | 1 | D | 2.795 | M | -5.0 | D | -11.72 | D | 0.939 | 4.958 | 25.0 | 0.981 | 0.990 | D | 1.105 | D | 0.965 | D | 0.554 | 0 | 5.41 | 1.062 | 1.199 | 1.000 | 1.000 | 15.732 | Deleterious |
| 305 | 2 | 166052866 | T | G | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166052866 | 166052866 | T | G | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon5:c.T680C:p.I227T,SCN1A:NM_001165964:exon5:c.T680C:p.I227T,SCN1A:NM_006920:exon5:c.T680C:p.I227T,SCN1A:NM_001202435:exon7:c.T680C:p.I227T | 2q24.3 | . | . | 0.0 | D | 0.999 | D | 0.997 | D | 0.000 | D | 1 | D | 3.39 | M | -5.2 | D | -4.88 | D | 0.95 | 5.342 | 25.8 | 0.997 | 0.994 | D | 1.073 | D | 0.978 | D | 0.487 | 0 | 5.77 | 1.062 | 1.199 | 0.996 | 0.980 | 16.395 | Deleterious |
| 306 | 2 | 166052882 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166052882 | 166052882 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon5:c.C664A:p.R222R,SCN1A:NM_001165964:exon5:c.C664A:p.R222R,SCN1A:NM_006920:exon5:c.C664A:p.R222R,SCN1A:NM_001202435:exon7:c.C664A:p.R222R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 307 | 2 | 166054637 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166054637 | 166054637 | G | A | splicing | SCN1A | NM_001165964:exon4:c.602+1C>T,NM_006920:exon4:c.602+1C>T,NM_001165963:exon4:c.602+1C>T,NM_001202435:exon6:c.602+1C>T | . | . | 2q24.3 | . | rs794726827 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.104 | 28.3 | 0.995 | 0.985 | D | . | . | . | . | 0.061 | 0 | 5.24 | 0.871 | 0.852 | 0.995 | 1.000 | 19.174 | Deleterious (FATHMM) |
| 308 | 2 | 166058616 | C | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166058616 | 166058616 | C | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon2:c.C337T:p.P113S,SCN1A:NM_001165964:exon2:c.C337T:p.P113S,SCN1A:NM_006920:exon2:c.C337T:p.P113S,SCN1A:NM_001202435:exon4:c.C337T:p.P113S | 2q24.3 | . | . | 0.034 | D | 0.962 | D | 0.979 | D | 0.003 | N | 1.000 | D | 3.215 | M | -4.03 | D | -6.12 | D | 0.809 | 4.032 | 23.7 | 0.999 | 0.952 | D | 1.090 | D | 0.949 | D | 0.554 | 0 | 4.57 | 0.917 | 0.902 | 1.000 | 1.000 | 17.891 | Deleterious |
| 309 | 2 | 166058651 | G | A | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166058651 | 166058651 | G | A | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon2:c.G302T:p.R101L,SCN1A:NM_001165964:exon2:c.G302T:p.R101L,SCN1A:NM_006920:exon2:c.G302T:p.R101L,SCN1A:NM_001202435:exon4:c.G302T:p.R101L | 2q24.3 | . | . | 0.0 | D | 0.942 | P | 0.742 | P | 0.001 | D | 1 | D | 3.94 | H | -4.78 | D | -6.24 | D | 0.936 | 5.849 | 27.3 | 0.998 | 0.984 | D | 1.095 | D | 0.969 | D | 0.554 | 0 | 4.43 | 0.871 | 0.807 | 1.000 | 1.000 | 17.591 | Deleterious |
| 310 | 2 | 166058652 | C | T | Pathogenic | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166058652 | 166058652 | C | T | exonic | SCN1A | . | synonymous SNV | SCN1A:NM_001165963:exon2:c.C301A:p.R101R,SCN1A:NM_001165964:exon2:c.C301A:p.R101R,SCN1A:NM_006920:exon2:c.C301A:p.R101R,SCN1A:NM_001202435:exon4:c.C301A:p.R101R | 2q24.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 311 | 2 | 166058684 | T | C | Pathogenic/Likely pathogenic, not provided | SCN1A | . | . | . | . | . | . | . | . | . | . | 2 | 166058684 | 166058684 | T | C | exonic | SCN1A | . | nonsynonymous SNV | SCN1A:NM_001165963:exon2:c.T269G:p.F90C,SCN1A:NM_001165964:exon2:c.T269G:p.F90C,SCN1A:NM_006920:exon2:c.T269G:p.F90C,SCN1A:NM_001202435:exon4:c.T269G:p.F90C | 2q24.3 | . | . | 0.0 | D | 0.999 | D | 0.969 | D | 0.000 | D | 1.000 | D | 3.94 | H | -4.91 | D | -6.92 | D | 0.906 | 5.781 | 27.1 | 0.993 | 0.988 | D | 1.073 | D | 0.974 | D | 0.487 | 0 | 4.57 | 1.062 | 1.028 | 1.000 | 1.000 | 14.377 | Deleterious |
| 312 | 2 | 168990819 | A | G | Pathogenic | ABCB11 | . | . | . | . | . | . | . | . | . | . | 2 | 168990819 | 168990819 | A | G | exonic | ABCB11 | . | nonsynonymous SNV | ABCB11:NM_003742:exon9:c.A890C:p.E297A | 2q31.1 | . | . | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.31 | M | -3.14 | D | -3.48 | D | 0.921 | 6.539 | 31 | 0.997 | 0.985 | D | 1.032 | D | 0.901 | D | 0.487 | 0 | 5.53 | 0.991 | 1.061 | 0.999 | 0.998 | 15.951 | Deleterious |
| 313 | 2 | 178538945 | G | A | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178538945 | 178538945 | G | A | ncRNA_exonic;splicing | TTN-AS1;TTN | NM_001267550:exon353:c.98989+1C>T,NM_001256850:exon303:c.94066+1C>T,NM_133432:exon182:c.72169+1C>T,NM_003319:exon181:c.71794+1C>T,NM_133437:exon182:c.72370+1C>T,NM_133378:exon302:c.91285+1C>T | . | . | 2q31.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.064 | 25.2 | 0.989 | 0.990 | D | . | . | . | . | 0.164 | 0 | 5.76 | 0.871 | 0.935 | 0.988 | 0.987 | 20.324 | Deleterious (FATHMM) |
| 314 | 2 | 178542263 | G | C | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178542263 | 178542263 | G | C | ncRNA_exonic;splicing | TTN-AS1;TTN | NM_001267550:exon349:c.97492+1C>G,NM_001256850:exon299:c.92569+1C>G,NM_133432:exon178:c.70672+1C>G,NM_003319:exon177:c.70297+1C>G,NM_133437:exon178:c.70873+1C>G,NM_133378:exon298:c.89788+1C>G | . | . | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 315 | 2 | 178546102 | T | C | Pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178546102 | 178546102 | T | C | exonic | TTN | . | nonsynonymous SNV | TTN:NM_003319:exon171:c.T67939G:p.C22647G,TTN:NM_133432:exon172:c.T68314G:p.C22772G,TTN:NM_133437:exon172:c.T68515G:p.C22839G,TTN:NM_133378:exon292:c.T87430G:p.C29144G,TTN:NM_001256850:exon293:c.T90211G:p.C30071G,TTN:NM_001267550:exon343:c.T95134G:p.C31712G | 2q31.2 | . | . | 0.382 | T | 0.959 | D | 0.721 | P | . | . | 1.000 | D | 1.1 | L | 0.63 | T | -7.15 | D | 0.505 | 2.009 | 16.27 | 0.950 | 0.966 | D | -0.803 | T | 0.175 | T | 0.563 | 0 | 5.82 | 1.062 | 1.199 | 1.000 | 1.000 | 16.19 | Tolerated |
| 316 | 2 | 178549309 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178549309 | 178549309 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon167:c.C65122A:p.R21708R,TTN:NM_133432:exon168:c.C65497A:p.R21833R,TTN:NM_133437:exon168:c.C65698A:p.R21900R,TTN:NM_133378:exon288:c.C84613A:p.R28205R,TTN:NM_001256850:exon289:c.C87394A:p.R29132R,TTN:NM_001267550:exon339:c.C92317A:p.R30773R | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 317 | 2 | 178559309 | T | A | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178559309 | 178559309 | T | A | splicing | TTN | NM_001267550:exon326:c.86821+2A>T,NM_001256850:exon276:c.81898+2A>T,NM_133432:exon155:c.60001+2A>T,NM_003319:exon154:c.59626+2A>T,NM_133437:exon155:c.60202+2A>T,NM_133378:exon275:c.79117+2A>T | . | . | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 318 | 2 | 178559695 | G | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178559695 | 178559695 | G | T | exonic | TTN | . | nonsynonymous SNV | TTN:NM_003319:exon154:c.G59242A:p.E19748K,TTN:NM_133432:exon155:c.G59617A:p.E19873K,TTN:NM_133437:exon155:c.G59818A:p.E19940K,TTN:NM_133378:exon275:c.G78733A:p.E26245K,TTN:NM_001256850:exon276:c.G81514A:p.E27172K,TTN:NM_001267550:exon326:c.G86437A:p.E28813K | 2q31.2 | . | rs868494032 | 0.122 | T | 0.999 | D | 0.996 | D | . | . | 1 | D | 1.075 | L | -0.21 | T | -2.63 | D | 0.622 | 3.791 | 23.4 | 0.959 | 0.982 | D | -0.252 | T | 0.401 | T | 0.554 | 0 | 5.77 | 0.871 | 0.935 | 1.000 | 1.000 | 20.347 | Tolerated |
| 319 | 2 | 178565095 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178565095 | 178565095 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon154:c.C53842A:p.R17948R,TTN:NM_133432:exon155:c.C54217A:p.R18073R,TTN:NM_133437:exon155:c.C54418A:p.R18140R,TTN:NM_133378:exon275:c.C73333A:p.R24445R,TTN:NM_001256850:exon276:c.C76114A:p.R25372R,TTN:NM_001267550:exon326:c.C81037A:p.R27013R | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 320 | 2 | 178565416 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178565416 | 178565416 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon154:c.C53521A:p.R17841R,TTN:NM_133432:exon155:c.C53896A:p.R17966R,TTN:NM_133437:exon155:c.C54097A:p.R18033R,TTN:NM_133378:exon275:c.C73012A:p.R24338R,TTN:NM_001256850:exon276:c.C75793A:p.R25265R,TTN:NM_001267550:exon326:c.C80716A:p.R26906R | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 321 | 2 | 178567954 | G | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178567954 | 178567954 | G | T | exonic | TTN | . | nonsynonymous SNV | TTN:NM_003319:exon154:c.G50983A:p.E16995K,TTN:NM_133432:exon155:c.G51358A:p.E17120K,TTN:NM_133437:exon155:c.G51559A:p.E17187K,TTN:NM_133378:exon275:c.G70474A:p.E23492K,TTN:NM_001256850:exon276:c.G73255A:p.E24419K,TTN:NM_001267550:exon326:c.G78178A:p.E26060K | 2q31.2 | . | . | 0.005 | D | 0.999 | D | 0.996 | D | . | . | 1 | D | 1.83 | L | 0.4 | T | -2.65 | D | 0.649 | 3.239 | 22.8 | 0.950 | 0.978 | D | -0.413 | T | 0.333 | T | 0.487 | 0 | 5.58 | 0.871 | 0.935 | 1.000 | 1.000 | 19.564 | Tolerated |
| 322 | 2 | 178574530 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178574530 | 178574530 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon154:c.C44407A:p.R14803R,TTN:NM_133432:exon155:c.C44782A:p.R14928R,TTN:NM_133437:exon155:c.C44983A:p.R14995R,TTN:NM_133378:exon275:c.C63898A:p.R21300R,TTN:NM_001256850:exon276:c.C66679A:p.R22227R,TTN:NM_001267550:exon326:c.C71602A:p.R23868R | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 323 | 2 | 178574811 | G | A | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178574811 | 178574811 | G | A | exonic | TTN | . | nonsynonymous SNV | TTN:NM_003319:exon154:c.G44126T:p.W14709L,TTN:NM_133432:exon155:c.G44501T:p.W14834L,TTN:NM_133437:exon155:c.G44702T:p.W14901L,TTN:NM_133378:exon275:c.G63617T:p.W21206L,TTN:NM_001256850:exon276:c.G66398T:p.W22133L,TTN:NM_001267550:exon326:c.G71321T:p.W23774L | 2q31.2 | . | . | 0.008 | D | 1.0 | D | 0.998 | D | . | . | 1 | D | 3.485 | M | 0.37 | T | -9.37 | D | 0.557 | 2.238 | 17.76 | 0.695 | 0.947 | D | 0.127 | D | 0.474 | T | 0.554 | 0 | 5.6 | 0.871 | 0.935 | 0.998 | 0.170 | 19.603 | Tolerated |
| 324 | 2 | 178578066 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178578066 | 178578066 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon150:c.C41254A:p.R13752R,TTN:NM_133432:exon151:c.C41629A:p.R13877R,TTN:NM_133437:exon151:c.C41830A:p.R13944R,TTN:NM_133378:exon271:c.C60745A:p.R20249R,TTN:NM_001256850:exon272:c.C63526A:p.R21176R,TTN:NM_001267550:exon322:c.C68449A:p.R22817R | 2q31.2 | 8.3e-05 | rs371678190 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 325 | 2 | 178579702 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178579702 | 178579702 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon147:c.C40300A:p.R13434R,TTN:NM_133432:exon148:c.C40675A:p.R13559R,TTN:NM_133437:exon148:c.C40876A:p.R13626R,TTN:NM_133378:exon268:c.C59791A:p.R19931R,TTN:NM_001256850:exon269:c.C62572A:p.R20858R,TTN:NM_001267550:exon319:c.C67495A:p.R22499R | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 326 | 2 | 178588700 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178588700 | 178588700 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon132:c.C35830A:p.R11944R,TTN:NM_133432:exon133:c.C36205A:p.R12069R,TTN:NM_133437:exon133:c.C36406A:p.R12136R,TTN:NM_133378:exon253:c.C55321A:p.R18441R,TTN:NM_001256850:exon254:c.C58102A:p.R19368R,TTN:NM_001267550:exon304:c.C63025A:p.R21009R | 2q31.2 | 8.3e-05 | rs368452607 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 327 | 2 | 178589508 | T | A | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178589508 | 178589508 | T | A | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon132:c.T35022T:p.Y11674Y,TTN:NM_133432:exon133:c.T35397T:p.Y11799Y,TTN:NM_133437:exon133:c.T35598T:p.Y11866Y,TTN:NM_133378:exon253:c.T54513T:p.Y18171Y,TTN:NM_001256850:exon254:c.T57294T:p.Y19098Y,TTN:NM_001267550:exon304:c.T62217T:p.Y20739Y | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 328 | 2 | 178589849 | C | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178589849 | 178589849 | C | T | exonic | TTN | . | synonymous SNV | TTN:NM_003319:exon132:c.C34681A:p.R11561R,TTN:NM_133432:exon133:c.C35056A:p.R11686R,TTN:NM_133437:exon133:c.C35257A:p.R11753R,TTN:NM_133378:exon253:c.C54172A:p.R18058R,TTN:NM_001256850:exon254:c.C56953A:p.R18985R,TTN:NM_001267550:exon304:c.C61876A:p.R20626R | 2q31.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 329 | 2 | 178605642 | G | T | Pathogenic/Likely pathogenic | TTN|TTN-AS1 | . | . | . | . | . | . | . | . | . | . | 2 | 178605642 | 178605642 | G | T | exonic | TTN | . | nonsynonymous SNV | TTN:NM_003319:exon107:c.G26458A:p.E8820K,TTN:NM_133432:exon108:c.G26833A:p.E8945K,TTN:NM_133437:exon108:c.G27034A:p.E9012K,TTN:NM_133378:exon228:c.G45949A:p.E15317K,TTN:NM_001256850:exon229:c.G48730A:p.E16244K,TTN:NM_001267550:exon279:c.G53653A:p.E17885K | 2q31.2 | . | . | 0.722 | T | 0.081 | B | 0.061 | B | . | . | 0.541 | N | -0.66 | N | 0.43 | T | -1.73 | N | 0.417 | 3.299 | 22.9 | 0.963 | 0.948 | D | -0.941 | T | 0.077 | T | 0.554 | 0 | 4.73 | -0.064 | 0.852 | 0.872 | 1.000 | 14.921 | Tolerated |
| 330 | 2 | 188990114 | G | A | Pathogenic | COL3A1 | . | . | . | . | . | . | . | . | . | . | 2 | 188990114 | 188990114 | G | A | exonic | COL3A1 | . | nonsynonymous SNV | COL3A1:NM_000090:exon9:c.G709A:p.G237R | 2q32.2 | . | rs587779625 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.65 | H | -6.29 | D | -6.63 | D | 0.96 | 6.035 | 28.0 | 0.998 | 0.998 | D | 0.995 | D | 0.991 | D | 0.554 | 0 | 5.57 | 0.917 | 0.998 | 0.998 | 0.980 | 19.904 | Deleterious |
| 331 | 2 | 188996179 | G | A | Pathogenic | COL3A1 | . | . | . | . | . | . | . | . | . | . | 2 | 188996179 | 188996179 | G | A | splicing | COL3A1 | NM_000090:exon23:c.1662+1G>A | . | . | 2q32.2 | . | rs587779535 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.301 | 25.8 | 0.994 | 0.993 | D | . | . | . | . | 0.075 | 0 | 5.61 | 0.917 | 1.048 | 0.983 | 0.293 | 19.634 | Deleterious (FATHMM) |
| 332 | 2 | 199349027 | C | T | Pathogenic | SATB2 | . | . | . | . | . | . | . | . | . | . | 2 | 199349027 | 199349027 | C | T | exonic | SATB2 | . | synonymous SNV | SATB2:NM_001172509:exon7:c.C847A:p.R283R,SATB2:NM_001172517:exon8:c.C847A:p.R283R,SATB2:NM_015265:exon8:c.C847A:p.R283R | 2q33.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 333 | 2 | 202530955 | G | A | Pathogenic | BMPR2 | . | . | . | . | . | . | . | . | . | . | 2 | 202530955 | 202530955 | G | A | splicing | BMPR2 | NM_001204:exon8:c.1128+1G>A | . | . | 2q33.2 | . | rs863223420 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.613 | 26.5 | 0.995 | 0.998 | D | . | . | . | . | 0.295 | 0 | 5.7 | 0.917 | 0.994 | 0.988 | 0.977 | 18.014 | Deleterious (FATHMM) |
| 334 | 2 | 214730491 | C | T | Pathogenic | BARD1 | . | . | . | . | . | . | . | . | . | . | 2 | 214730491 | 214730491 | C | T | exonic | BARD1 | . | synonymous SNV | BARD1:NM_001282549:exon4:c.C382A:p.R128R,BARD1:NM_001282548:exon5:c.C511A:p.R171R,BARD1:NM_001282545:exon6:c.C568A:p.R190R,BARD1:NM_001282543:exon9:c.C1864A:p.R622R,BARD1:NM_000465:exon10:c.C1921A:p.R641R | 2q35 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 335 | 2 | 214745842 | C | T | Pathogenic | BARD1 | . | . | . | . | . | . | . | . | . | . | 2 | 214745842 | 214745842 | C | T | exonic | BARD1 | . | nonsynonymous SNV | BARD1:NM_001282548:exon3:c.C280A:p.Q94K,BARD1:NM_001282545:exon4:c.C337A:p.Q113K,BARD1:NM_001282543:exon7:c.C1633A:p.Q545K,BARD1:NM_000465:exon8:c.C1690A:p.Q564K | 2q35 | . | . | 0.143 | T | 0.839 | P | 0.298 | B | 0.367 | N | 0.938 | N | 2.175 | M | -0.71 | T | -1.48 | N | 0.409 | 1.942 | 15.85 | 0.978 | 0.907 | D | -0.368 | T | 0.513 | D | 0.732 | 0 | 3.46 | 0.069 | 0.980 | 0.140 | 0.102 | 12.417 | Deleterious |
| 336 | 2 | 214752472 | C | G | Pathogenic | BARD1 | . | . | . | . | . | . | . | . | . | . | 2 | 214752472 | 214752472 | C | G | exonic | BARD1 | . | synonymous SNV | BARD1:NM_001282548:exon2:c.C242C:p.S81S,BARD1:NM_001282545:exon3:c.C299C:p.S100S,BARD1:NM_001282543:exon6:c.C1595C:p.S532S,BARD1:NM_000465:exon7:c.C1652C:p.S551S | 2q35 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 337 | 2 | 214780662 | C | G | Pathogenic | BARD1 | . | . | . | . | . | . | . | . | . | . | 2 | 214780662 | 214780662 | C | G | exonic | BARD1 | . | synonymous SNV | BARD1:NM_001282543:exon3:c.C1155C:p.Y385Y,BARD1:NM_000465:exon4:c.C1212C:p.Y404Y | 2q35 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 338 | 2 | 214781426 | C | T | Pathogenic | BARD1 | . | . | . | . | . | . | . | . | . | . | 2 | 214781426 | 214781426 | C | T | exonic | BARD1 | . | synonymous SNV | BARD1:NM_001282543:exon3:c.C391A:p.R131R,BARD1:NM_000465:exon4:c.C448A:p.R150R | 2q35 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 339 | 2 | 214792327 | C | T | Pathogenic | BARD1 | . | . | . | . | . | . | . | . | . | . | 2 | 214792327 | 214792327 | C | T | exonic | BARD1 | . | synonymous SNV | BARD1:NM_001282543:exon2:c.C277A:p.R93R,BARD1:NM_000465:exon3:c.C334A:p.R112R,BARD1:NM_001282549:exon3:c.C334A:p.R112R | 2q35 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 340 | 2 | 218661153 | C | T | Pathogenic | BCS1L | . | . | . | . | . | . | . | . | . | . | 2 | 218661153 | 218661153 | C | T | exonic | BCS1L | . | stopgain | BCS1L:NM_001079866:exon2:c.C166T:p.R56X,BCS1L:NM_001257344:exon2:c.C166T:p.R56X,BCS1L:NM_001257342:exon3:c.C166T:p.R56X,BCS1L:NM_001257343:exon3:c.C166T:p.R56X,BCS1L:NM_004328:exon3:c.C166T:p.R56X | 2q35 | . | rs121908576 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.631 | 36 | 0.996 | 0.768 | D | . | . | . | . | 0.722 | 0 | 2.23 | -0.662 | 0.020 | 0.878 | 0.997 | 13.337 | Deleterious (FATHMM) |
| 341 | 2 | 218814186 | C | T | Pathogenic | CYP27A1 | . | . | . | . | . | . | . | . | . | . | 2 | 218814186 | 218814186 | C | T | exonic | CYP27A1 | . | nonsynonymous SNV | CYP27A1:NM_000784:exon6:c.C1183T:p.R395C | 2q35 | 7.7e-05 | rs121908096 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.805 | H | -4.41 | D | -7.45 | D | 0.972 | 7.874 | 35 | 0.999 | 0.689 | D | 1.092 | D | 0.964 | D | 0.732 | 0 | 5.76 | 0.871 | 0.935 | 0.987 | 0.997 | 14.458 | Deleterious |
| 342 | 2 | 218882368 | C | A | Pathogenic | WNT10A | . | . | . | . | . | . | . | . | . | . | 2 | 218882368 | 218882368 | C | A | exonic | WNT10A | . | stopgain | WNT10A:NM_025216:exon2:c.C321A:p.C107X | 2q35 | 0.0010 | rs121908119 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.734 | 36 | 0.995 | 0.948 | D | . | . | . | . | 0.628 | 0 | 2.9 | -0.041 | 0.935 | 0.998 | 1.000 | 10.635 | Deleterious (FATHMM) |
| 343 | 2 | 219418500 | C | T | Pathogenic | DES | . | . | . | . | . | . | . | . | . | . | 2 | 219418500 | 219418500 | C | T | exonic | DES | . | nonsynonymous SNV | DES:NM_001927:exon1:c.C38T:p.S13F | 2q35 | . | rs62636495 | 0.0 | D | 0.997 | D | 0.995 | D | 0.000 | D | 1 | D | 2.485 | M | -2.36 | D | -3.55 | D | 0.963 | 4.909 | 25.0 | 0.995 | 0.980 | D | 0.830 | D | 0.829 | D | 0.598 | 0 | 5.12 | 0.871 | 0.870 | 1.000 | 1.000 | 18.536 | Deleterious |
| 344 | 2 | 219420347 | G | A | Pathogenic/Likely pathogenic | DES | . | . | . | . | . | . | . | . | . | . | 2 | 219420347 | 219420347 | G | A | splicing | DES | NM_001927:exon3:c.735+1G>A | . | . | 2q35 | . | rs397516698 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.093 | 25.3 | 0.995 | 0.994 | D | . | . | . | . | 0.066 | 0 | 4.38 | 0.917 | 0.953 | 0.988 | 0.825 | 17.138 | Deleterious (FATHMM) |
| 345 | 2 | 219421532 | C | T | Pathogenic/Likely pathogenic, not provided | DES | . | . | . | . | . | . | . | . | . | . | 2 | 219421532 | 219421532 | C | T | exonic | DES | . | nonsynonymous SNV | DES:NM_001927:exon6:c.C1216T:p.R406W | 2q35 | . | rs121913003 | 0.0 | D | 1.0 | D | 0.999 | D | 0.021 | N | 0.991 | A | 4.255 | H | -3.53 | D | -6.77 | D | 0.953 | 7.329 | 34 | 0.999 | 0.881 | D | 1.096 | D | 0.942 | D | 0.646 | 0 | 2.06 | 0.871 | 0.852 | 1.000 | 1.000 | 13.614 | Deleterious |
| 346 | 2 | 219423817 | C | T | Pathogenic/Likely pathogenic | DES | . | . | . | . | . | . | . | . | . | . | 2 | 219423817 | 219423817 | C | T | exonic | DES | . | stopgain | DES:NM_001927:exon7:c.C1285T:p.R429X | 2q35 | 7.7e-05 | rs150974575 | . | . | . | . | . | . | 0.001 | D | 1 | A | . | . | . | . | . | . | . | 14.351 | 45 | 0.997 | 0.959 | D | . | . | . | . | 0.615 | 0 | 5.02 | -0.058 | 0.935 | 0.999 | 1.000 | 16.936 | Deleterious (FATHMM) |
| 347 | 2 | 219425734 | C | T | Pathogenic/Likely pathogenic, not provided | DES | . | . | . | . | . | . | . | . | . | . | 2 | 219425734 | 219425734 | C | T | exonic | DES | . | nonsynonymous SNV | DES:NM_001927:exon8:c.C1360T:p.R454W | 2q35 | . | rs267607490 | 0.0 | D | 1.0 | D | 0.995 | D | 0.003 | N | 1.000 | D | 3.195 | M | -6.47 | D | -6.27 | D | 0.927 | 8.329 | 35 | 0.999 | 0.952 | D | 0.978 | D | 0.990 | D | 0.624 | 0 | 4.46 | 0.871 | 0.935 | 1.000 | 0.997 | 16.935 | Deleterious |
| 348 | 2 | 223959821 | T | G | Pathogenic/Likely pathogenic | MRPL44 | . | . | . | . | . | . | . | . | . | . | 2 | 223959821 | 223959821 | T | G | exonic | MRPL44 | . | nonsynonymous SNV | MRPL44:NM_022915:exon2:c.T467G:p.L156R | 2q36.1 | 0.0002 | rs143697995 | 0.002 | D | 0.989 | D | 0.814 | P | 0.002 | N | 0.803 | N | 2.36 | M | 0.77 | T | -4.62 | D | 0.961 | 4.928 | 25.0 | 0.997 | 0.983 | D | -0.511 | T | 0.258 | T | 0.722 | 0 | 5.7 | 0.991 | 1.061 | 0.437 | 0.375 | 13.923 | Tolerated |
| 349 | 2 | 227695907 | T | G | Pathogenic/Likely pathogenic | SLC19A3 | . | . | . | . | . | . | . | . | . | . | 2 | 227695907 | 227695907 | T | G | exonic | SLC19A3 | . | nonsynonymous SNV | SLC19A3:NM_025243:exon4:c.T1154C:p.L385P | 2q36.3 | . | rs563607795 | 0.001 | D | 1.0 | D | 0.992 | D | 0.000 | D | 1 | D | 2.885 | M | -2.5 | D | -6.21 | D | 0.89 | 7.026 | 33 | 0.999 | 0.990 | D | 0.866 | D | 0.833 | D | 0.638 | 0 | 5.03 | 1.003 | 1.199 | 0.998 | 0.995 | 14.927 | Deleterious |
| 350 | 2 | 237360087 | G | A | Pathogenic | COL6A3 | . | . | . | . | . | . | . | . | . | . | 2 | 237360087 | 237360087 | G | A | splicing | COL6A3 | NM_057166:exon14:c.4461+1C>T,NM_057167:exon16:c.5664+1C>T,NM_004369:exon17:c.6282+1C>T | . | . | 2q37.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.079 | 25.3 | 0.994 | 0.979 | D | . | . | . | . | 0.077 | 0 | 5.22 | 0.871 | 0.935 | 0.766 | 0.643 | 17.788 | Deleterious (FATHMM) |
| 351 | 2 | 237361176 | A | C | Pathogenic | COL6A3 | . | . | . | . | . | . | . | . | . | . | 2 | 237361176 | 237361176 | A | C | splicing | COL6A3 | NM_057166:exon13:c.4336-2T>G,NM_057167:exon15:c.5539-2T>G,NM_004369:exon16:c.6157-2T>G | . | . | 2q37.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.541 | 23.1 | 0.989 | 0.996 | D | . | . | . | . | 0.075 | 0 | 5.22 | 0.991 | 1.061 | 0.961 | 0.059 | 15.135 | Deleterious (FATHMM) |
| 352 | 2 | 240775863 | C | T | Pathogenic/Likely pathogenic | KIF1A | . | . | . | . | . | . | . | . | . | . | 2 | 240775863 | 240775863 | C | T | exonic | KIF1A | . | synonymous SNV | KIF1A:NM_004321:exon10:c.C946A:p.R316R,KIF1A:NM_001244008:exon11:c.C946A:p.R316R | 2q37.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 353 | 2 | 240788118 | C | T | Pathogenic | KIF1A | . | . | . | . | . | . | . | . | . | . | 2 | 240788118 | 240788118 | C | T | exonic | KIF1A | . | nonsynonymous SNV | KIF1A:NM_004321:exon3:c.C296A:p.T99K,KIF1A:NM_001244008:exon4:c.C296A:p.T99K | 2q37.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | U | 1 | D | 4.96 | H | -1.61 | D | -5.12 | D | 0.941 | 6.858 | 33 | 0.994 | 0.949 | D | 1.074 | D | 0.868 | D | 0.672 | 0 | 4.79 | 0.917 | 0.953 | 0.862 | 0.989 | 17.829 | Deleterious |
| 354 | 2 | 240797715 | G | A | Pathogenic/Likely pathogenic | KIF1A | . | . | . | . | . | . | . | . | . | . | 2 | 240797715 | 240797715 | G | A | exonic | KIF1A | . | nonsynonymous SNV | KIF1A:NM_004321:exon1:c.G38T:p.R13L,KIF1A:NM_001244008:exon2:c.G38T:p.R13L | 2q37.3 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | U | 1 | D | 4.775 | H | -3.51 | D | -5.93 | D | 0.877 | 7.776 | 35 | 0.999 | 0.989 | D | 1.093 | D | 0.959 | D | 0.646 | 0 | 4.78 | 0.871 | 0.892 | 0.998 | 1.000 | 17.769 | Deleterious |
| 355 | 3 | 8733956 | G | A | Pathogenic | CAV3|SSUH2 | . | . | . | . | . | . | . | . | . | . | 3 | 8733956 | 8733956 | G | A | exonic | CAV3 | . | nonsynonymous SNV | CAV3:NM_001234:exon1:c.G80A:p.R27Q,CAV3:NM_033337:exon1:c.G80A:p.R27Q | 3p25.3 | . | rs116840778 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.37 | M | -4.27 | D | -3.72 | D | 0.912 | 7.372 | 34 | 1.000 | 0.951 | D | 1.100 | D | 0.958 | D | 0.497 | 0 | 5.24 | 0.917 | 1.048 | 0.999 | 0.995 | 15.571 | Deleterious |
| 356 | 3 | 8745688 | G | A | Pathogenic/Likely pathogenic, not provided | CAV3 | . | . | . | . | . | . | . | . | . | . | 3 | 8745688 | 8745688 | G | A | exonic | CAV3 | . | nonsynonymous SNV | CAV3:NM_001234:exon2:c.G277A:p.A93T,CAV3:NM_033337:exon2:c.G277A:p.A93T | 3p25.3 | . | rs28936686 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.32 | M | -3.73 | D | -3.87 | D | 0.977 | 7.102 | 33 | 0.999 | 0.983 | D | 1.090 | D | 0.941 | D | 0.428 | 0 | 4.79 | 0.917 | 0.998 | 0.998 | 0.999 | 16.561 | Deleterious |
| 357 | 3 | 10142041 | C | T | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10142041 | 10142041 | C | T | exonic | VHL | . | nonsynonymous SNV | VHL:NM_000551:exon1:c.C194T:p.S65L,VHL:NM_198156:exon1:c.C194T:p.S65L | 3p25.3 | . | rs5030826 | 0.188 | T | 0.93 | P | 0.213 | B | 0.000 | N | 0.935 | D | 2.66 | M | -7.02 | D | -4.27 | D | 0.954 | 6.524 | 31 | 0.999 | 0.982 | D | 1.098 | D | 0.976 | D | 0.442 | 0 | 4.67 | 0.868 | 0.782 | 0.927 | 0.992 | 12.339 | Deleterious |
| 358 | 3 | 10142080 | A | G | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10142080 | 10142080 | A | G | exonic | VHL | . | nonsynonymous SNV | VHL:NM_000551:exon1:c.A233G:p.N78S,VHL:NM_198156:exon1:c.A233G:p.N78S | 3p25.3 | . | rs5030804 | 0.0 | D | 0.994 | D | 0.851 | P | 0.000 | D | 0.993 | D | 2.715 | M | -9.18 | D | -3.61 | D | 0.478 | 5.787 | 27.1 | 0.998 | 0.978 | D | 0.792 | D | 0.998 | D | 0.442 | 0 | 5.43 | 1.058 | 0.996 | 0.988 | 0.993 | 13.502 | Deleterious |
| 359 | 3 | 10142113 | T | C | Pathogenic/Likely pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10142113 | 10142113 | T | C | exonic | VHL | . | nonsynonymous SNV | VHL:NM_000551:exon1:c.T266C:p.L89P,VHL:NM_198156:exon1:c.T266C:p.L89P | 3p25.3 | . | rs5030807 | 0.001 | D | 0.999 | D | 0.974 | D | 0.000 | D | 1.000 | D | 1.28 | L | -6.9 | D | -4.35 | D | 0.959 | 6.161 | 28.5 | 0.999 | 0.968 | D | 1.012 | D | 0.984 | D | 0.442 | 0 | 5.06 | 0.987 | 0.884 | 0.982 | 0.991 | 12.845 | Deleterious |
| 360 | 3 | 10142139 | T | C | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10142139 | 10142139 | T | C | exonic | VHL | . | nonsynonymous SNV | VHL:NM_000551:exon1:c.T292C:p.Y98H,VHL:NM_198156:exon1:c.T292C:p.Y98H | 3p25.3 | . | rs5030809 | 0.043 | D | 1.0 | D | 0.999 | D | 0.000 | D | 0.925 | A | 2.7 | M | -8.94 | D | -3.03 | D | 0.903 | 6.048 | 28.0 | 0.998 | 0.983 | D | 0.805 | D | 0.998 | D | 0.442 | 0 | 5.16 | 0.987 | 0.884 | 0.968 | 0.932 | 13.023 | Deleterious |
| 361 | 3 | 10149786 | G | A | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10149786 | 10149786 | G | A | splicing | VHL | NM_198156:exon2:c.341-1G>A,NM_000551:exon3:c.464-1G>A | . | . | 3p25.3 | . | rs5030817 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.204 | 23.9 | 0.993 | 0.906 | D | . | . | . | . | 0.257 | 0 | 4.58 | 0.917 | 1.048 | 0.983 | 0.954 | 15.277 | Deleterious (FATHMM) |
| 362 | 3 | 10149804 | C | T | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10149804 | 10149804 | C | T | exonic | VHL | . | stopgain | VHL:NM_198156:exon2:c.C358T:p.R120X,VHL:NM_000551:exon3:c.C481T:p.R161X | 3p25.3 | . | rs5030818 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 12.771 | 40 | 0.994 | 0.739 | D | . | . | . | . | 0.722 | 0 | 2.94 | -0.058 | 0.067 | 0.991 | 0.998 | 11.948 | Deleterious (FATHMM) |
| 363 | 3 | 10149820 | T | C | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10149820 | 10149820 | T | C | exonic | VHL | . | nonsynonymous SNV | VHL:NM_198156:exon2:c.T374C:p.V125A,VHL:NM_000551:exon3:c.T497C:p.V166A | 3p25.3 | . | rs397516445 | 0.008 | D | 0.934 | P | 0.764 | P | 0.000 | D | 0.998 | D | 1.87 | L | -6.95 | D | -2.2 | N | 0.916 | 4.602 | 24.4 | 0.998 | 0.899 | D | 1.009 | D | 0.984 | D | 0.722 | 0 | 4.86 | 0.991 | 1.061 | 0.974 | 0.993 | 12.722 | Deleterious |
| 364 | 3 | 10149822 | C | T | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10149822 | 10149822 | C | T | exonic | VHL | . | nonsynonymous SNV | VHL:NM_198156:exon2:c.C376T:p.R126W,VHL:NM_000551:exon3:c.C499T:p.R167W | 3p25.3 | . | rs5030820 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 0.999 | D | 2.095 | M | -7.05 | D | -5.23 | D | 0.965 | 7.743 | 35 | 0.999 | 0.820 | D | 1.019 | D | 0.988 | D | 0.722 | 0 | 3.97 | 0.871 | 0.935 | 0.942 | 0.981 | 10.407 | Deleterious |
| 365 | 3 | 10149823 | G | A | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10149823 | 10149823 | G | A | exonic | VHL | . | nonsynonymous SNV | VHL:NM_198156:exon2:c.G377A:p.R126Q,VHL:NM_000551:exon3:c.G500A:p.R167Q | 3p25.3 | . | rs5030821 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 0.999 | A | 2.095 | M | -6.98 | D | -2.78 | D | 0.926 | 7.514 | 34 | 1.000 | 0.928 | D | 0.975 | D | 0.989 | D | 0.722 | 0 | 4.86 | 0.917 | 1.048 | 0.942 | 0.977 | 15.866 | Deleterious |
| 366 | 3 | 10149885 | C | G | Pathogenic | VHL | . | . | . | . | . | . | . | . | . | . | 3 | 10149885 | 10149885 | C | G | exonic | VHL | . | nonsynonymous SNV | VHL:NM_198156:exon2:c.C439G:p.L147V,VHL:NM_000551:exon3:c.C562G:p.L188V | 3p25.3 | . | rs5030824 | 0.0 | D | 0.999 | D | 0.994 | D | 0.000 | D | 0.988 | A | 2.25 | M | -7.24 | D | -1.85 | N | 0.9 | 5.747 | 26.9 | 0.998 | 0.817 | D | 1.030 | D | 0.990 | D | 0.722 | 0 | 2.73 | 0.008 | 0.077 | 0.981 | 0.991 | 8.285 | Deleterious |
| 367 | 3 | 12584624 | C | G | Pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12584624 | 12584624 | C | G | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon17:c.C1837C:p.L613L | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 368 | 3 | 12585745 | C | T | Pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12585745 | 12585745 | C | T | exonic | RAF1 | . | nonsynonymous SNV | RAF1:NM_002880:exon14:c.C1472A:p.T491K | 3p25.2 | . | . | 0.001 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | D | -0.715 | N | -1.5 | D | -5.21 | D | 0.952 | 7.116 | 34 | 0.994 | 0.989 | D | 0.136 | D | 0.415 | T | 0.722 | 0 | 5.26 | 0.917 | 1.048 | 1.000 | 0.998 | 19.066 | Tolerated |
| 369 | 3 | 12599717 | G | C | Pathogenic/Likely pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12599717 | 12599717 | G | C | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon10:c.G1082G:p.G361G | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 370 | 3 | 12604182 | T | G | Pathogenic/Likely pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604182 | 12604182 | T | G | exonic | RAF1 | . | nonsynonymous SNV | RAF1:NM_002880:exon7:c.T788C:p.V263A | 3p25.2 | . | . | 0.001 | D | 0.94 | P | 0.76 | P | 0.000 | D | 1 | D | 2.54 | M | -0.96 | T | -2.32 | N | 0.935 | 3.753 | 23.3 | 0.987 | 0.930 | D | 0.174 | D | 0.536 | D | 0.707 | 0 | 5.73 | 1.062 | 1.199 | 1.000 | 1.000 | 16.312 | Deleterious |
| 371 | 3 | 12604184 | T | A | Pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604184 | 12604184 | T | A | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon7:c.T786T:p.N262N | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 372 | 3 | 12604188 | C | G | Pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604188 | 12604188 | C | G | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon7:c.C782C:p.P261P | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 373 | 3 | 12604189 | C | G | Pathogenic/Likely pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604189 | 12604189 | C | G | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon7:c.C781C:p.P261P | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 374 | 3 | 12604189 | C | T | Pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604189 | 12604189 | C | T | exonic | RAF1 | . | nonsynonymous SNV | RAF1:NM_002880:exon7:c.C781A:p.P261T | 3p25.2 | . | rs121434594 | 0.024 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 2.56 | M | -0.99 | T | -4.87 | D | 0.942 | 5.192 | 25.5 | 0.997 | 0.939 | D | 0.387 | D | 0.670 | D | 0.707 | 0 | 5.73 | 0.917 | 1.048 | 0.989 | 1.000 | 20.260 | Deleterious |
| 375 | 3 | 12604195 | T | A | Pathogenic/Likely pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604195 | 12604195 | T | A | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon7:c.T775T:p.S259S | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 376 | 3 | 12604200 | C | T | Pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604200 | 12604200 | C | T | exonic | RAF1 | . | stopgain | RAF1:NM_002880:exon7:c.C770A:p.S257X | 3p25.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.388 | 39 | 0.995 | 0.939 | D | . | . | . | . | 0.707 | 0 | 5.73 | 0.917 | 1.048 | 0.990 | 0.995 | 20.260 | Deleterious (FATHMM) |
| 377 | 3 | 12604201 | T | C | Pathogenic/Likely pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604201 | 12604201 | T | C | exonic | RAF1 | . | nonsynonymous SNV | RAF1:NM_002880:exon7:c.T769G:p.S257A | 3p25.2 | . | . | 0.002 | D | 0.969 | D | 0.694 | P | 0.000 | D | 1 | D | 2.56 | M | -0.98 | T | -1.94 | N | 0.675 | 3.932 | 23.5 | 0.993 | 0.933 | D | 0.235 | D | 0.557 | D | 0.707 | 0 | 5.73 | 1.062 | 1.199 | 0.994 | 0.998 | 16.312 | Deleterious |
| 378 | 3 | 12604202 | G | T | Pathogenic/Likely pathogenic | RAF1 | . | . | . | . | . | . | . | . | . | . | 3 | 12604202 | 12604202 | G | T | exonic | RAF1 | . | synonymous SNV | RAF1:NM_002880:exon7:c.G768A:p.R256R | 3p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 379 | 3 | 14141665 | C | T | Pathogenic | TMEM43 | . | . | . | . | . | . | . | . | . | . | 3 | 14141665 | 14141665 | C | T | exonic | TMEM43 | . | nonsynonymous SNV | TMEM43:NM_024334:exon12:c.C1073T:p.S358L | 3p25.1 | . | rs63750743 | 0.007 | D | 1.0 | D | 0.962 | D | 0.000 | D | 1 | A | 1.79 | L | 1.28 | T | -4.1 | D | 0.978 | 7.793 | 35 | 0.999 | 0.949 | D | -0.810 | T | 0.211 | T | 0.722 | 0 | 5.71 | 0.871 | 0.888 | 0.952 | 0.981 | 19.852 | Tolerated |
| 380 | 3 | 15644326 | G | A | Pathogenic | BTD | . | . | . | . | . | . | . | . | . | . | 3 | 15644326 | 15644326 | G | A | exonic | BTD | . | nonsynonymous SNV | BTD:NM_000060:exon4:c.G470A:p.R157H,BTD:NM_001281723:exon4:c.G476A:p.R159H,BTD:NM_001281725:exon4:c.G410A:p.R137H,BTD:NM_001281724:exon6:c.G476A:p.R159H | 3p25.1 | 0.0002 | rs146015592 | 0.041 | D | 0.185 | B | 0.056 | B | 0.000 | D | 0.999 | D | 2.325 | M | -2.34 | D | -3.64 | D | 0.828 | 3.494 | 23.1 | 0.997 | 0.967 | D | 0.101 | D | 0.639 | D | 0.706 | 0 | 5.95 | 0.917 | 1.048 | 0.999 | 1.000 | 20.385 | Deleterious |
| 381 | 3 | 15644367 | G | A | Pathogenic | BTD | . | . | . | . | . | . | . | . | . | . | 3 | 15644367 | 15644367 | G | A | exonic | BTD | . | nonsynonymous SNV | BTD:NM_000060:exon4:c.G511A:p.A171T,BTD:NM_001281723:exon4:c.G517A:p.A173T,BTD:NM_001281725:exon4:c.G451A:p.A151T,BTD:NM_001281724:exon6:c.G517A:p.A173T | 3p25.1 | 0.0004 | rs13073139 | 0.002 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.185 | M | -2.51 | D | -3.7 | D | 0.942 | 6.685 | 32 | 0.999 | 0.996 | D | 0.836 | D | 0.868 | D | 0.706 | 0 | 5.95 | 0.917 | 1.048 | 1.000 | 1.000 | 20.385 | Deleterious |
| 382 | 3 | 15645186 | G | C | Pathogenic | BTD | . | . | . | . | . | . | . | . | . | . | 3 | 15645186 | 15645186 | G | C | exonic | BTD | . | nonsynonymous SNV | BTD:NM_000060:exon4:c.G1330C:p.D444H,BTD:NM_001281723:exon4:c.G1336C:p.D446H,BTD:NM_001281725:exon4:c.G1270C:p.D424H,BTD:NM_001281724:exon6:c.G1336C:p.D446H | 3p25.1 | 0.0301 | rs13078881 | 0.003 | D | 1.0 | D | 0.987 | D | 0.012 | N | 0.992 | A | 2.99 | M | -3.72 | D | -5.48 | D | 0.817 | 2.820 | 21.5 | 0.990 | 0.932 | D | 0.464 | D | 0.757 | D | 0.706 | 0 | 3.8 | 0.917 | 0.138 | 0.991 | 0.501 | 12.205 | Deleterious |
| 383 | 3 | 15645224 | A | C | Pathogenic | BTD | . | . | . | . | . | . | . | . | . | . | 3 | 15645224 | 15645224 | A | C | exonic | BTD | . | nonsynonymous SNV | BTD:NM_000060:exon4:c.A1368C:p.Q456H,BTD:NM_001281723:exon4:c.A1374C:p.Q458H,BTD:NM_001281725:exon4:c.A1308C:p.Q436H,BTD:NM_001281724:exon6:c.A1374C:p.Q458H | 3p25.1 | 0.0010 | rs80338685 | 0.001 | D | 1.0 | D | 0.987 | D | 0.000 | D | 1.000 | A | 3.055 | M | -2.47 | D | -4.55 | D | 0.987 | 3.362 | 22.9 | 0.989 | 0.804 | D | 0.800 | D | 0.813 | D | 0.706 | 0 | -2.26 | 0.110 | -0.530 | 0.525 | 0.003 | 13.912 | Deleterious |
| 384 | 3 | 15645451 | C | T | Pathogenic | BTD | . | . | . | . | . | . | . | . | . | . | 3 | 15645451 | 15645451 | C | T | exonic | BTD | . | nonsynonymous SNV | BTD:NM_000060:exon4:c.C1595T:p.T532M,BTD:NM_001281723:exon4:c.C1601T:p.T534M,BTD:NM_001281725:exon4:c.C1535T:p.T512M,BTD:NM_001281724:exon6:c.C1601T:p.T534M | 3p25.1 | 0.0002 | rs104893688 | 0.027 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1 | A | 2.61 | M | -2.92 | D | -4.11 | D | 0.958 | 6.473 | 30 | 0.999 | 0.954 | D | 0.974 | D | 0.868 | D | 0.615 | 0 | 4.71 | 0.871 | 0.071 | 0.993 | 0.262 | 14.286 | Deleterious |
| 385 | 3 | 25733931 | A | T | Pathogenic | NGLY1 | . | . | . | . | . | . | . | . | . | . | 3 | 25733931 | 25733931 | A | T | exonic | NGLY1 | . | synonymous SNV | NGLY1:NM_001145293:exon8:c.A1147A:p.R383R,NGLY1:NM_001145294:exon8:c.A1075A:p.R359R,NGLY1:NM_001145295:exon8:c.A1201A:p.R401R,NGLY1:NM_018297:exon8:c.A1201A:p.R401R | 3p24.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 386 | 3 | 30674228 | C | T | Pathogenic | TGFBR2 | . | . | . | . | . | . | . | . | . | . | 3 | 30674228 | 30674228 | C | T | exonic | TGFBR2 | . | nonsynonymous SNV | TGFBR2:NM_003242:exon5:c.C1378T:p.R460C,TGFBR2:NM_001024847:exon6:c.C1453T:p.R485C | 3p24.1 | . | rs104893811 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 2.695 | M | -3.29 | D | -7.84 | D | 0.964 | 7.824 | 35 | 0.999 | 0.894 | D | 0.998 | D | 0.908 | D | 0.722 | 0 | 5.75 | 0.853 | 0.935 | 0.998 | 0.990 | 19.966 | Deleterious |
| 387 | 3 | 30688470 | C | T | Pathogenic/Likely pathogenic | TGFBR2 | . | . | . | . | . | . | . | . | . | . | 3 | 30688470 | 30688470 | C | T | exonic | TGFBR2 | . | stopgain | TGFBR2:NM_003242:exon6:c.C1483T:p.R495X,TGFBR2:NM_001024847:exon7:c.C1558T:p.R520X | 3p24.1 | . | rs104893819 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.847 | 40 | 0.996 | 0.866 | D | . | . | . | . | 0.722 | 0 | 3.53 | 0.853 | 0.015 | 0.998 | 0.938 | 13.633 | Deleterious (FATHMM) |
| 388 | 3 | 30688476 | C | T | Pathogenic | TGFBR2 | . | . | . | . | . | . | . | . | . | . | 3 | 30688476 | 30688476 | C | T | exonic | TGFBR2 | . | stopgain | TGFBR2:NM_003242:exon6:c.C1489T:p.R497X,TGFBR2:NM_001024847:exon7:c.C1564T:p.R522X | 3p24.1 | . | rs863223852 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 15.020 | 49 | 0.998 | 0.886 | D | . | . | . | . | 0.722 | 0 | 5.38 | 0.853 | 0.892 | 0.955 | 0.967 | 14.351 | Deleterious (FATHMM) |
| 389 | 3 | 30691478 | G | A | Pathogenic | TGFBR2 | . | . | . | . | . | . | . | . | . | . | 3 | 30691478 | 30691478 | G | A | exonic | TGFBR2 | . | nonsynonymous SNV | TGFBR2:NM_003242:exon7:c.G1583A:p.R528H,TGFBR2:NM_001024847:exon8:c.G1658A:p.R553H | 3p24.1 | . | rs104893815 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.25 | H | -5.65 | D | -4.72 | D | 0.979 | 7.614 | 34 | 0.999 | 0.983 | D | 0.993 | D | 0.990 | D | 0.731 | 0 | 5.91 | 0.897 | 1.048 | 0.995 | 0.887 | 20.286 | Deleterious |
| 390 | 3 | 32159096 | C | T | Pathogenic/Likely pathogenic | GPD1L | . | . | . | . | . | . | . | . | . | . | 3 | 32159096 | 32159096 | C | T | exonic | GPD1L | . | nonsynonymous SNV | GPD1L:NM_015141:exon6:c.C839T:p.A280V | 3p22.3 | 7.7e-05 | rs72552291 | 0.832 | T | 0.001 | B | 0.004 | B | 0.002 | N | 0.988 | A | 0.405 | N | -0.04 | T | 0.29 | N | 0.161 | 0.097 | 3.573 | 0.230 | 0.546 | D | -0.965 | T | 0.102 | T | 0.615 | 0 | 3.42 | 0.031 | 0.918 | 0.996 | 0.861 | 9.107 | Tolerated |
| 391 | 3 | 33058220 | G | A | Pathogenic | GLB1 | . | . | . | . | . | . | . | . | . | . | 3 | 33058220 | 33058220 | G | A | exonic | GLB1 | . | nonsynonymous SNV | GLB1:NM_000404:exon6:c.G602T:p.R201L,GLB1:NM_001079811:exon6:c.G512T:p.R171L,GLB1:NM_001317040:exon7:c.G746T:p.R249L | 3p22.3 | . | . | 0.2 | T | 0.319 | B | 0.121 | B | 0.000 | D | 1 | D | 1.525 | L | -4.74 | D | -4.61 | D | 0.857 | 6.194 | 28.6 | 0.997 | 0.984 | D | 0.768 | D | 0.872 | D | 0.745 | 0 | 5.57 | 0.871 | 0.852 | 0.873 | 0.859 | 19.517 | Deleterious |
| 392 | 3 | 33114550 | C | A | Pathogenic | CRTAP | . | . | . | . | . | . | . | . | . | . | 3 | 33114550 | 33114550 | C | A | splicing | CRTAP | NM_006371:exon1:c.471+2C>A | . | . | 3p22.3 | . | rs137853943 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.463 | 23.0 | 0.890 | 0.902 | D | . | . | . | . | 0.047 | 1 | 0.989 | -0.379 | -0.067 | 0.807 | 0.869 | 2.645 | Deleterious (FATHMM) |
| 393 | 3 | 36996617 | A | G | Pathogenic | MLH1 | . | . | . | . | . | . | . | . | . | . | 3 | 36996617 | 36996617 | A | G | splicing | MLH1 | NM_001258271:exon2:c.117-2A>G,NM_000249:exon2:c.117-2A>G | . | . | 3p22.2 | . | rs267607712 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.333 | 25.8 | 0.995 | 0.994 | D | . | . | . | . | 0.295 | 0 | 5.55 | 1.062 | 1.187 | 0.997 | 1.000 | 14.967 | Deleterious (FATHMM) |
| 394 | 3 | 37050588 | G | T | Pathogenic | MLH1 | . | . | . | . | . | . | . | . | . | . | 3 | 37050588 | 37050588 | G | T | exonic | MLH1 | . | stopgain | MLH1:NM_001258271:exon17:c.G1999T:p.E667X,MLH1:NM_001167619:exon18:c.G1483T:p.E495X,MLH1:NM_001258273:exon18:c.G1483T:p.E495X,MLH1:NM_000249:exon19:c.G2206T:p.E736X,MLH1:NM_001167617:exon19:c.G1912T:p.E638X,MLH1:NM_001167618:exon19:c.G1483T:p.E495X,MLH1:NM_001258274:exon20:c.G1483T:p.E495X | 3p22.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 15.375 | 50 | 0.996 | 0.976 | D | . | . | . | . | 0.719 | 0 | 5.41 | 0.917 | 1.045 | 0.999 | 1.000 | 19.255 | Deleterious (FATHMM) |
| 395 | 3 | 38551022 | G | A | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38551022 | 38551022 | G | A | exonic | SCN5A | . | stopgain | SCN5A:NM_001099405:exon27:c.G5296T:p.E1766X,SCN5A:NM_001160161:exon27:c.G5188T:p.E1730X,SCN5A:NM_000335:exon28:c.G5347T:p.E1783X,SCN5A:NM_001099404:exon28:c.G5350T:p.E1784X,SCN5A:NM_001160160:exon28:c.G5251T:p.E1751X,SCN5A:NM_198056:exon28:c.G5350T:p.E1784X | 3p22.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 14.560 | 46 | 0.997 | 0.981 | D | . | . | . | . | 0.638 | 0 | 4.82 | 0.871 | 0.852 | 0.993 | 0.974 | 18.087 | Deleterious (FATHMM) |
| 396 | 3 | 38551243 | C | T | Pathogenic/Likely pathogenic, not provided | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38551243 | 38551243 | C | T | exonic | SCN5A | . | stopgain | SCN5A:NM_001099405:exon27:c.C5075A:p.S1692X,SCN5A:NM_001160161:exon27:c.C4967A:p.S1656X,SCN5A:NM_000335:exon28:c.C5126A:p.S1709X,SCN5A:NM_001099404:exon28:c.C5129A:p.S1710X,SCN5A:NM_001160160:exon28:c.C5030A:p.S1677X,SCN5A:NM_198056:exon28:c.C5129A:p.S1710X | 3p22.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 14.443 | 46 | 0.996 | 0.984 | D | . | . | . | . | 0.693 | 0 | 4.68 | 0.917 | 0.953 | 0.992 | 0.551 | 17.791 | Deleterious (FATHMM) |
| 397 | 3 | 38551441 | G | A | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38551441 | 38551441 | G | A | exonic | SCN5A | . | nonsynonymous SNV | SCN5A:NM_001099405:exon27:c.G4877T:p.R1626L,SCN5A:NM_001160161:exon27:c.G4769T:p.R1590L,SCN5A:NM_000335:exon28:c.G4928T:p.R1643L,SCN5A:NM_001099404:exon28:c.G4931T:p.R1644L,SCN5A:NM_001160160:exon28:c.G4832T:p.R1611L,SCN5A:NM_198056:exon28:c.G4931T:p.R1644L | 3p22.2 | . | rs28937316 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1.000 | D | 4.445 | H | -5.18 | D | -6.18 | D | 0.955 | 7.155 | 34 | 0.998 | 0.979 | D | 1.005 | D | 0.984 | D | 0.706 | 0 | 4.54 | 0.871 | 0.852 | 0.995 | 0.999 | 17.490 | Deleterious |
| 398 | 3 | 38551505 | C | T | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38551505 | 38551505 | C | T | exonic | SCN5A | . | synonymous SNV | SCN5A:NM_001099405:exon27:c.C4813A:p.R1605R,SCN5A:NM_001160161:exon27:c.C4705A:p.R1569R,SCN5A:NM_000335:exon28:c.C4864A:p.R1622R,SCN5A:NM_001099404:exon28:c.C4867A:p.R1623R,SCN5A:NM_001160160:exon28:c.C4768A:p.R1590R,SCN5A:NM_198056:exon28:c.C4867A:p.R1623R | 3p22.2 | 7.7e-05 | rs137854613 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 399 | 3 | 38579372 | C | T | Pathogenic/Likely pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38579372 | 38579372 | C | T | exonic | SCN5A | . | nonsynonymous SNV | SCN5A:NM_000335:exon18:c.C3349A:p.Q1117K,SCN5A:NM_001099404:exon18:c.C3352A:p.Q1118K,SCN5A:NM_001099405:exon18:c.C3352A:p.Q1118K,SCN5A:NM_001160160:exon18:c.C3349A:p.Q1117K,SCN5A:NM_198056:exon18:c.C3352A:p.Q1118K | 3p22.2 | . | . | 0.622 | T | 0.019 | B | 0.025 | B | 0.593 | N | 1.000 | N | 1.185 | L | -1.65 | D | -0.02 | N | 0.595 | -0.393 | 0.403 | 0.759 | 0.652 | D | -0.805 | T | 0.376 | T | 0.495 | 0 | 3.41 | -0.293 | 0.077 | 0.118 | 0.338 | 10.034 | Tolerated |
| 400 | 3 | 38586038 | C | T | Pathogenic/Likely pathogenic, not provided | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38586038 | 38586038 | C | T | exonic | SCN5A | . | synonymous SNV | SCN5A:NM_000335:exon16:c.C2440A:p.R814R,SCN5A:NM_001099404:exon16:c.C2440A:p.R814R,SCN5A:NM_001099405:exon16:c.C2440A:p.R814R,SCN5A:NM_001160160:exon16:c.C2440A:p.R814R,SCN5A:NM_001160161:exon16:c.C2440A:p.R814R,SCN5A:NM_198056:exon16:c.C2440A:p.R814R | 3p22.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 401 | 3 | 38597737 | G | A | Pathogenic/Likely pathogenic, not provided | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38597737 | 38597737 | G | A | exonic | SCN5A | . | stopgain | SCN5A:NM_000335:exon14:c.G2254T:p.G752X,SCN5A:NM_001099404:exon14:c.G2254T:p.G752X,SCN5A:NM_001099405:exon14:c.G2254T:p.G752X,SCN5A:NM_001160160:exon14:c.G2254T:p.G752X,SCN5A:NM_001160161:exon14:c.G2254T:p.G752X,SCN5A:NM_198056:exon14:c.G2254T:p.G752X | 3p22.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.536 | 46 | 0.994 | 0.990 | D | . | . | . | . | 0.706 | 0 | 4.68 | 0.871 | 0.892 | 0.999 | 1.000 | 17.753 | Deleterious (FATHMM) |
| 402 | 3 | 38605949 | T | A | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38605949 | 38605949 | T | A | splicing | SCN5A | NM_001160161:exon10:c.1338+2A>T,NM_001160160:exon10:c.1338+2A>T,NM_001099405:exon10:c.1338+2A>T,NM_001099404:exon10:c.1338+2A>T,NM_198056:exon10:c.1338+2A>T,NM_000335:exon10:c.1338+2A>T | . | . | 3p22.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 403 | 3 | 38606058 | G | A | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38606058 | 38606058 | G | A | exonic | SCN5A | . | nonsynonymous SNV | SCN5A:NM_000335:exon10:c.G1231T:p.V411L,SCN5A:NM_001099404:exon10:c.G1231T:p.V411L,SCN5A:NM_001099405:exon10:c.G1231T:p.V411L,SCN5A:NM_001160160:exon10:c.G1231T:p.V411L,SCN5A:NM_001160161:exon10:c.G1231T:p.V411L,SCN5A:NM_198056:exon10:c.G1231T:p.V411L | 3p22.2 | . | . | 0.0 | D | 0.999 | D | 0.998 | D | 0.000 | D | 1.000 | D | 3.005 | M | -5.29 | D | -2.94 | D | 0.949 | 7.371 | 34 | 0.998 | 0.989 | D | 1.081 | D | 0.980 | D | 0.706 | 0 | 5.54 | 0.871 | 0.935 | 0.993 | 0.994 | 19.679 | Deleterious |
| 404 | 3 | 38613781 | G | A | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38613781 | 38613781 | G | A | exonic | SCN5A | . | nonsynonymous SNV | SCN5A:NM_000335:exon6:c.G665T:p.R222L,SCN5A:NM_198056:exon6:c.G665T:p.R222L | 3p22.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.605 | H | -5.09 | D | -6.83 | D | 0.976 | 2.664 | 20.6 | 0.999 | 0.986 | D | 0.996 | D | 0.985 | D | 0.554 | 0 | 4.3 | 0.871 | 0.852 | 1.000 | 1.000 | 17.040 | Deleterious |
| 405 | 3 | 38630392 | G | A | Pathogenic | SCN5A | . | . | . | . | . | . | . | . | . | . | 3 | 38630392 | 38630392 | G | A | exonic | SCN5A | . | nonsynonymous SNV | SCN5A:NM_000335:exon3:c.G311T:p.R104L,SCN5A:NM_001099404:exon3:c.G311T:p.R104L,SCN5A:NM_001099405:exon3:c.G311T:p.R104L,SCN5A:NM_001160160:exon3:c.G311T:p.R104L,SCN5A:NM_001160161:exon3:c.G311T:p.R104L,SCN5A:NM_198056:exon3:c.G311T:p.R104L | 3p22.2 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.475 | M | -4.51 | D | -6.65 | D | 0.954 | 8.067 | 35 | 0.999 | 0.983 | D | 1.092 | D | 0.969 | D | 0.644 | 0 | 5.11 | 0.871 | 0.935 | 0.998 | 1.000 | 18.721 | Deleterious |
| 406 | 3 | 46859511 | A | G | Pathogenic | MYL3 | . | . | . | . | . | . | . | . | . | . | 3 | 46859511 | 46859511 | A | G | exonic | MYL3 | . | nonsynonymous SNV | MYL3:NM_000258:exon4:c.A445C:p.M149L | 3p21.31 | . | . | 0.042 | D | 0.043 | B | 0.033 | B | 0.000 | D | 1 | D | 0.93 | L | -1.26 | T | -2.72 | D | 0.825 | 2.680 | 20.7 | 0.975 | 0.931 | D | -0.681 | T | 0.275 | T | 0.743 | 0 | 4.26 | 0.991 | 0.964 | 0.998 | 0.996 | 11.65 | Tolerated |
| 407 | 3 | 46860702 | G | A | Pathogenic/Likely pathogenic, not provided | MYL3 | . | . | . | . | . | . | . | . | . | . | 3 | 46860702 | 46860702 | G | A | exonic | MYL3 | . | nonsynonymous SNV | MYL3:NM_000258:exon3:c.G281T:p.R94L | 3p21.31 | . | . | 0.03 | D | 0.055 | B | 0.044 | B | 0.006 | N | 0.939 | D | 1.375 | L | -1.27 | T | -4.16 | D | 0.425 | 5.557 | 26.4 | 0.997 | 0.920 | D | -0.483 | T | 0.302 | T | 0.526 | 0 | 4.36 | 0.871 | 0.935 | 0.992 | 0.993 | 8.377 | Tolerated |
| 408 | 3 | 46860813 | C | G | Pathogenic | MYL3 | . | . | . | . | . | . | . | . | . | . | 3 | 46860813 | 46860813 | C | G | exonic | MYL3 | . | synonymous SNV | MYL3:NM_000258:exon3:c.C170C:p.A57A | 3p21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 409 | 3 | 48565636 | C | T | Pathogenic | COL7A1 | . | . | . | . | . | . | . | . | . | . | 3 | 48565636 | 48565636 | C | T | exonic | COL7A1 | . | synonymous SNV | COL7A1:NM_000094:exon114:c.C8440A:p.R2814R | 3p21.31 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 410 | 3 | 81648854 | T | C | Pathogenic/Likely pathogenic | GBE1 | . | . | . | . | . | . | . | . | . | . | 3 | 81648854 | 81648854 | T | C | splicing | GBE1 | NM_000158:exon5:c.691+2A>G | . | . | 3p12.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.595 | 24.4 | 0.994 | 0.991 | D | . | . | . | . | 0.263 | 0 | 6.06 | 1.062 | 1.199 | 1.000 | 1.000 | 16.609 | Deleterious (FATHMM) |
| 411 | 3 | 100748182 | C | T | Pathogenic | TFG | . | . | . | . | . | . | . | . | . | . | 3 | 100748182 | 100748182 | C | T | exonic | TFG | . | nonsynonymous SNV | TFG:NM_001007565:exon8:c.C854T:p.P285L,TFG:NM_001195478:exon8:c.C854T:p.P285L,TFG:NM_001195479:exon8:c.C842T:p.P281L,TFG:NM_006070:exon8:c.C854T:p.P285L | 3q12.2 | . | rs207482230 | 0.004 | D | 0.131 | B | 0.059 | B | 0.001 | D | 1.000 | D | 0 | N | 0.63 | T | -2.13 | N | 0.765 | 2.550 | 19.79 | 0.999 | 0.931 | D | -1.041 | T | 0.092 | T | 0.707 | 0 | 6.16 | 0.871 | 0.931 | 1.000 | 1.000 | 17.045 | Tolerated |
| 412 | 3 | 121781772 | C | T | Pathogenic | IQCB1 | . | . | . | . | . | . | . | . | . | . | 3 | 121781772 | 121781772 | C | T | exonic | IQCB1 | . | synonymous SNV | IQCB1:NM_001023571:exon10:c.C982A:p.R328R,IQCB1:NM_001023570:exon13:c.C1381A:p.R461R | 3q13.33 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 413 | 3 | 123352464 | C | T | Pathogenic | ADCY5 | . | . | . | . | . | . | . | . | . | . | 3 | 123352464 | 123352464 | C | T | exonic | ADCY5 | . | synonymous SNV | ADCY5:NM_001199642:exon2:c.C202A:p.R68R,ADCY5:NM_183357:exon2:c.C1252A:p.R418R | 3q21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 414 | 3 | 136301087 | C | A | Pathogenic | PCCB | . | . | . | . | . | . | . | . | . | . | 3 | 136301087 | 136301087 | C | A | exonic | PCCB | . | stopgain | PCCB:NM_000532:exon9:c.C942A:p.Y314X,PCCB:NM_001178014:exon10:c.C1002A:p.Y334X | 3q22.3 | . | rs572246667 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.688 | 38 | 0.997 | 0.805 | D | . | . | . | . | 0.732 | 0 | 0.728 | -0.501 | 0.071 | 0.992 | 0.993 | 8.215 | Deleterious (FATHMM) |
| 415 | 3 | 150941647 | C | A | Pathogenic/Likely pathogenic | CLRN1 | . | . | . | . | . | . | . | . | . | . | 3 | 150941647 | 150941647 | C | A | exonic | CLRN1 | . | nonsynonymous SNV | CLRN1:NM_001195794:exon2:c.C368T:p.A123V,CLRN1:NM_052995:exon2:c.C140T:p.A47V,CLRN1:NM_174878:exon2:c.C368T:p.A123V | 3q25.1 | . | . | 0.631 | T | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 1.67 | L | -1.76 | D | -2.08 | N | 0.847 | 6.586 | 31 | 0.998 | 0.982 | D | 0.152 | D | 0.656 | D | 0.487 | 0 | 5.1 | 0.917 | 0.953 | 1.000 | 1.000 | 18.873 | Deleterious |
| 416 | 3 | 181712840 | C | G | Pathogenic | SOX2|SOX2-OT | . | . | . | . | . | . | . | . | . | . | 3 | 181712840 | 181712840 | C | G | exonic | SOX2 | . | stopgain | SOX2:NM_003106:exon1:c.C480G:p.Y160X | 3q26.33 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 11.705 | 38 | 0.996 | 0.872 | D | . | . | . | . | 0.598 | 0 | 4.39 | 0.871 | 0.887 | 1.000 | 1.000 | 9.551 | Deleterious (FATHMM) |
| 417 | 3 | 183041720 | C | T | Pathogenic | MCCC1 | . | . | . | . | . | . | . | . | . | . | 3 | 183041720 | 183041720 | C | T | exonic | MCCC1 | . | nonsynonymous SNV | MCCC1:NM_001293273:exon9:c.C763A:p.Q255K,MCCC1:NM_020166:exon11:c.C1114A:p.Q372K | 3q27.1 | . | . | 0.022 | D | 0.967 | D | 0.782 | P | 0.000 | D | 1 | D | 3.31 | M | -4.44 | D | -3.96 | D | 0.802 | 6.005 | 27.9 | 0.996 | 0.997 | D | 1.092 | D | 0.951 | D | 0.732 | 0 | 5.45 | 0.917 | 1.048 | 1.000 | 1.000 | 19.270 | Deleterious |
| 418 | 3 | 183045522 | T | G | Pathogenic/Likely pathogenic | MCCC1 | . | . | . | . | . | . | . | . | . | . | 3 | 183045522 | 183045522 | T | G | exonic | MCCC1 | . | nonsynonymous SNV | MCCC1:NM_001293273:exon8:c.T623C:p.M208T,MCCC1:NM_020166:exon10:c.T974C:p.M325T | 3q27.1 | . | . | 0.006 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.26 | M | -4.2 | D | -5.01 | D | 0.935 | 5.833 | 27.2 | 0.992 | 0.970 | D | 1.097 | D | 0.949 | D | 0.757 | 0 | 5.63 | 1.062 | 1.199 | 1.000 | 1.000 | 15.851 | Deleterious |
| 419 | 3 | 183057343 | C | T | Pathogenic | MCCC1 | . | . | . | . | . | . | . | . | . | . | 3 | 183057343 | 183057343 | C | T | exonic | MCCC1 | . | synonymous SNV | MCCC1:NM_001293273:exon6:c.C490A:p.R164R,MCCC1:NM_020166:exon8:c.C841A:p.R281R | 3q27.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 420 | 3 | 183092545 | G | A | Pathogenic | MCCC1 | . | . | . | . | . | . | . | . | . | . | 3 | 183092545 | 183092545 | G | A | exonic | MCCC1 | . | nonsynonymous SNV | MCCC1:NM_020166:exon3:c.G137T:p.G46V | 3q27.1 | . | . | 0.148 | T | 0.017 | B | 0.004 | B | 0.127 | N | 1 | D | 0 | N | -2.84 | D | -0.3 | N | 0.727 | 3.049 | 22.4 | 0.984 | 0.974 | D | -0.918 | T | 0.576 | D | 0.707 | 0 | 5.85 | 0.871 | 0.046 | 0.994 | 0.908 | 18.929 | Deleterious |
| 421 | 3 | 184136687 | A | G | Pathogenic | EIF2B5 | . | . | . | . | . | . | . | . | . | . | 3 | 184136687 | 184136687 | A | G | exonic | EIF2B5 | . | nonsynonymous SNV | EIF2B5:NM_003907:exon2:c.A271G:p.T91A | 3q27.1 | . | rs28939717 | 0.249 | T | 0.997 | D | 0.985 | D | 0.000 | D | 1 | A | 0.86 | L | -3.29 | D | -1.05 | N | 0.901 | 2.434 | 19.04 | 0.995 | 0.991 | D | 0.957 | D | 0.866 | D | 0.660 | 0 | 5.7 | 1.062 | 1.140 | 1.000 | 1.000 | 15.961 | Deleterious |
| 422 | 3 | 184137637 | G | A | Pathogenic | EIF2B5 | . | . | . | . | . | . | . | . | . | . | 3 | 184137637 | 184137637 | G | A | exonic | EIF2B5 | . | nonsynonymous SNV | EIF2B5:NM_003907:exon3:c.G338A:p.R113H | 3q27.1 | 0.0005 | rs113994049 | 0.166 | T | 0.002 | B | 0.003 | B | 0.000 | N | 0.992 | A | 1.52 | L | -4.65 | D | -1.8 | N | 0.667 | 3.278 | 22.8 | 0.989 | 0.850 | D | 0.441 | D | 0.815 | D | 0.722 | 0 | 1.51 | -0.540 | 0.154 | 0.984 | 0.992 | 8.328 | Deleterious |
| 423 | 3 | 189864392 | A | G | Pathogenic | TP63 | . | . | . | . | . | . | . | . | . | . | 3 | 189864392 | 189864392 | A | G | exonic | TP63 | . | nonsynonymous SNV | TP63:NM_001114980:exon3:c.A458G:p.H153R,TP63:NM_001114981:exon3:c.A458G:p.H153R,TP63:NM_001114982:exon3:c.A458G:p.H153R,TP63:NM_001114978:exon5:c.A740G:p.H247R,TP63:NM_001114979:exon5:c.A740G:p.H247R,TP63:NM_003722:exon5:c.A740G:p.H247R | 3q28 | . | rs864621968 | 0.001 | D | 0.999 | D | 0.977 | D | 0.000 | D | 1 | D | 3.165 | M | -7.16 | D | -7.84 | D | 0.986 | 5.562 | 26.4 | 0.998 | 0.989 | D | 0.894 | D | 0.996 | D | 0.693 | 0 | 5.85 | 1.062 | 1.199 | 0.999 | 0.998 | 15.423 | Deleterious |
| 424 | 3 | 193638064 | A | G | Pathogenic | OPA1 | . | . | . | . | . | . | . | . | . | . | 3 | 193638064 | 193638064 | A | G | exonic | OPA1 | . | nonsynonymous SNV | OPA1:NM_130831:exon8:c.A875G:p.K292R,OPA1:NM_015560:exon9:c.A983G:p.K328R,OPA1:NM_130832:exon9:c.A929G:p.K310R,OPA1:NM_130833:exon9:c.A986G:p.K329R,OPA1:NM_130834:exon10:c.A1037G:p.K346R,OPA1:NM_130835:exon10:c.A1040G:p.K347R,OPA1:NM_130836:exon10:c.A1094G:p.K365R,OPA1:NM_130837:exon11:c.A1148G:p.K383R | 3q29 | . | rs398124303 | 0.023 | D | 0.999 | D | 0.996 | D | 0.000 | D | 1 | D | 1.875 | L | -4.19 | D | -2.53 | D | 0.783 | 6.265 | 29.0 | 0.999 | 0.991 | D | 0.997 | D | 0.913 | D | 0.707 | 0 | 5.5 | 1.062 | 1.028 | 0.896 | 0.745 | 14.783 | Deleterious |
| 425 | 3 | 193642763 | A | G | Pathogenic | OPA1 | . | . | . | . | . | . | . | . | . | . | 3 | 193642763 | 193642763 | A | G | splicing | OPA1 | NM_015560:exon10:c.985-2A>G,NM_130837:exon12:c.1150-2A>G,NM_130836:exon11:c.1096-2A>G,NM_130835:exon11:c.1042-2A>G,NM_130834:exon11:c.1039-2A>G,NM_130833:exon10:c.988-2A>G,NM_130832:exon10:c.931-2A>G,NM_130831:exon9:c.877-2A>G | . | . | 3q29 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.174 | 25.5 | 0.995 | 0.995 | D | . | . | . | . | 0.295 | 0 | 5.59 | 1.062 | 1.199 | 0.930 | 0.922 | 14.942 | Deleterious (FATHMM) |
| 426 | 3 | 193643996 | G | A | Pathogenic | OPA1 | . | . | . | . | . | . | . | . | . | . | 3 | 193643996 | 193643996 | G | A | exonic | OPA1 | . | nonsynonymous SNV | OPA1:NM_130831:exon13:c.G1226A:p.R409H,OPA1:NM_015560:exon14:c.G1334A:p.R445H,OPA1:NM_130832:exon14:c.G1280A:p.R427H,OPA1:NM_130833:exon14:c.G1337A:p.R446H,OPA1:NM_130834:exon15:c.G1388A:p.R463H,OPA1:NM_130835:exon15:c.G1391A:p.R464H,OPA1:NM_130836:exon15:c.G1445A:p.R482H,OPA1:NM_130837:exon16:c.G1499A:p.R500H | 3q29 | . | rs80356529 | 0.001 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1 | A | 2.84 | M | -4.21 | D | -4.7 | D | 0.953 | 7.484 | 34 | 0.999 | 0.993 | D | 1.083 | D | 0.946 | D | 0.707 | 0 | 5.8 | 0.917 | 1.048 | 0.998 | 0.992 | 19.051 | Deleterious |
| 427 | 3 | 193647144 | C | T | Pathogenic | OPA1 | . | . | . | . | . | . | . | . | . | . | 3 | 193647144 | 193647144 | C | T | exonic | OPA1 | . | stopgain | OPA1:NM_130831:exon16:c.C1561T:p.R521X,OPA1:NM_015560:exon17:c.C1669T:p.R557X,OPA1:NM_130832:exon17:c.C1615T:p.R539X,OPA1:NM_130833:exon17:c.C1672T:p.R558X,OPA1:NM_130834:exon18:c.C1723T:p.R575X,OPA1:NM_130835:exon18:c.C1726T:p.R576X,OPA1:NM_130836:exon18:c.C1780T:p.R594X,OPA1:NM_130837:exon19:c.C1834T:p.R612X | 3q29 | . | rs398124299 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.393 | 42 | 0.998 | 0.930 | D | . | . | . | . | 0.707 | 0 | 5.64 | 0.871 | 0.935 | 0.997 | 0.979 | 14.218 | Deleterious (FATHMM) |
| 428 | 3 | 193664952 | C | T | Pathogenic | OPA1 | . | . | . | . | . | . | . | . | . | . | 3 | 193664952 | 193664952 | C | T | exonic | OPA1 | . | stopgain | OPA1:NM_130831:exon24:c.C2461T:p.R821X,OPA1:NM_015560:exon25:c.C2569T:p.R857X,OPA1:NM_130832:exon25:c.C2515T:p.R839X,OPA1:NM_130833:exon25:c.C2572T:p.R858X,OPA1:NM_130834:exon26:c.C2623T:p.R875X,OPA1:NM_130835:exon26:c.C2626T:p.R876X,OPA1:NM_130836:exon26:c.C2680T:p.R894X,OPA1:NM_130837:exon27:c.C2734T:p.R912X | 3q29 | . | rs794727405 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.510 | 46 | 0.997 | 0.950 | D | . | . | . | . | 0.706 | 0 | 5.88 | 0.871 | 0.892 | 0.989 | 1.000 | 14.102 | Deleterious (FATHMM) |
| 429 | 4 | 664945 | G | A | Pathogenic | PDE6B | . | . | . | . | . | . | . | . | . | . | 4 | 664945 | 664945 | G | A | splicing | PDE6B | NM_000283:exon18:c.2193+1G>A,NM_001145291:exon18:c.2193+1G>A,NM_001145292:exon16:c.1356+1G>A | . | . | 4p16.3 | . | rs727504075 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.609 | 24.4 | 0.995 | 0.995 | D | . | . | . | . | 0.256 | 0 | 4.27 | 0.917 | 0.902 | 0.971 | 0.861 | 14.555 | Deleterious (FATHMM) |
| 430 | 4 | 987858 | C | T | Pathogenic | IDUA|SLC26A1 | . | . | . | . | . | . | . | . | . | . | 4 | 987858 | 987858 | C | T | exonic | IDUA | . | stopgain | IDUA:NM_000203:exon2:c.C208T:p.Q70X | 4p16.3 | 0.0008 | rs121965020 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.383 | 35 | 0.998 | 0.706 | D | . | . | . | . | 0.609 | 0 | 3.51 | 0.871 | 0.852 | 0.998 | 0.999 | 12.533 | Deleterious (FATHMM) |
| 431 | 4 | 1002747 | G | A | Pathogenic | IDUA | . | . | . | . | . | . | . | . | . | . | 4 | 1002747 | 1002747 | G | A | exonic | IDUA | . | stopgain | IDUA:NM_000203:exon9:c.G1205A:p.W402X | 4p16.3 | 0.0004 | rs121965019 | . | . | . | . | . | . | 0.100 | N | 1 | A | . | . | . | . | . | . | . | 11.886 | 38 | 0.992 | 0.705 | D | . | . | . | . | 0.677 | 0 | 4.86 | 0.897 | 0.986 | 0.554 | 0.725 | 15.450 | Deleterious (FATHMM) |
| 432 | 4 | 1801837 | C | T | Pathogenic | FGFR3 | . | . | . | . | . | . | . | . | . | . | 4 | 1801837 | 1801837 | C | T | exonic | FGFR3 | . | nonsynonymous SNV | FGFR3:NM_000142:exon7:c.C742T:p.R248C,FGFR3:NM_001163213:exon7:c.C742T:p.R248C,FGFR3:NM_022965:exon7:c.C742T:p.R248C | 4p16.3 | . | rs121913482 | 0.05 | D | 1.0 | D | 0.999 | D | 0.000 | N | 1 | A | 4.01 | H | -1.37 | T | -6.69 | D | 0.872 | 6.430 | 29.7 | 0.999 | 0.847 | D | 0.938 | D | 0.799 | D | 0.696 | 0 | 3.0 | -0.058 | 0.721 | 0.938 | 0.935 | 13.581 | Deleterious |
| 433 | 4 | 1804392 | G | A | Pathogenic | FGFR3 | . | . | . | . | . | . | . | . | . | . | 4 | 1804392 | 1804392 | G | A | exonic | FGFR3 | . | nonsynonymous SNV | FGFR3:NM_000142:exon9:c.G1138A:p.G380R,FGFR3:NM_001163213:exon9:c.G1144A:p.G382R | 4p16.3 | . | rs28931614 | 0.085 | T | 0.996 | D | 0.819 | P | 0.000 | D | 1 | D | 1.7 | L | -1.98 | D | -1.15 | N | 0.851 | 5.222 | 25.6 | 0.997 | 0.972 | D | 0.337 | D | 0.638 | D | 0.696 | 0 | 3.82 | 0.917 | 1.045 | 1.000 | 0.995 | 14.958 | Deleterious |
| 434 | 4 | 1805644 | C | G | Pathogenic | FGFR3 | . | . | . | . | . | . | . | . | . | . | 4 | 1805644 | 1805644 | C | G | exonic | FGFR3 | . | nonsynonymous SNV | FGFR3:NM_022965:exon10:c.C1284G:p.N428K,FGFR3:NM_000142:exon12:c.C1620G:p.N540K,FGFR3:NM_001163213:exon12:c.C1626G:p.N542K | 4p16.3 | . | rs28933068 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | -0.365 | N | -2.7 | D | -4.84 | D | 0.484 | 5.506 | 26.3 | 0.993 | 0.969 | D | 0.176 | D | 0.603 | D | 0.696 | 0 | 3.15 | -0.032 | 0.050 | 0.983 | 0.999 | 8.170 | Deleterious |
| 435 | 4 | 1805644 | C | A | Pathogenic | FGFR3 | . | . | . | . | . | . | . | . | . | . | 4 | 1805644 | 1805644 | C | A | exonic | FGFR3 | . | nonsynonymous SNV | FGFR3:NM_022965:exon10:c.C1284A:p.N428K,FGFR3:NM_000142:exon12:c.C1620A:p.N540K,FGFR3:NM_001163213:exon12:c.C1626A:p.N542K | 4p16.3 | . | rs28933068 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | -0.365 | N | -2.7 | D | -4.84 | D | 0.484 | 5.982 | 27.8 | 0.993 | 0.968 | D | 0.176 | D | 0.603 | D | 0.696 | 0 | 3.15 | -0.032 | 0.050 | 0.983 | 0.999 | 8.170 | Deleterious |
| 436 | 4 | 6301846 | C | T | Pathogenic | WFS1 | . | . | . | . | . | . | . | . | . | . | 4 | 6301846 | 6301846 | C | T | exonic | WFS1 | . | nonsynonymous SNV | WFS1:NM_001145853:exon8:c.C2051T:p.A684V,WFS1:NM_006005:exon8:c.C2051T:p.A684V | 4p16.1 | . | rs387906930 | 0.0 | D | 1.0 | D | 0.958 | D | 0.000 | D | 1 | D | 2.71 | M | -4.16 | D | -2.2 | N | 0.894 | 6.780 | 32 | 0.999 | 0.983 | D | 1.083 | D | 0.940 | D | 0.707 | 0 | 5.49 | 0.871 | 0.870 | 0.990 | 0.913 | 18.357 | Deleterious |
| 437 | 4 | 15516005 | G | A | Pathogenic | CC2D2A | . | . | . | . | . | . | . | . | . | . | 4 | 15516005 | 15516005 | G | A | splicing | CC2D2A | NM_001080522:exon11:c.1017+1G>A | . | . | 4p15.32 | 8.2e-05 | rs200407856 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.778 | 23.4 | 0.965 | 0.977 | D | . | . | . | . | 0.099 | 0 | 6.17 | 0.917 | 1.048 | 0.210 | 0.007 | 17.796 | Deleterious (FATHMM) |
| 438 | 4 | 52028899 | C | G | Pathogenic | SGCB | . | . | . | . | . | . | . | . | . | . | 4 | 52028899 | 52028899 | C | G | exonic | SGCB | . | synonymous SNV | SGCB:NM_000232:exon4:c.C452C:p.T151T | 4q12 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 439 | 4 | 52029766 | C | T | Pathogenic | SGCB | . | . | . | . | . | . | . | . | . | . | 4 | 52029766 | 52029766 | C | T | exonic | SGCB | . | nonsynonymous SNV | SGCB:NM_000232:exon3:c.C341A:p.S114Y | 4q12 | . | . | 0.002 | D | 0.986 | D | 0.876 | P | 0.000 | D | 1 | D | 1.245 | L | -3.77 | D | -2.8 | D | 0.75 | 6.295 | 29.1 | 0.995 | 0.991 | D | 0.901 | D | 0.868 | D | 0.707 | 0 | 5.25 | 0.917 | 0.998 | 1.000 | 0.988 | 17.822 | Deleterious |
| 440 | 4 | 52038229 | C | T | Pathogenic/Likely pathogenic | SGCB | . | . | . | . | . | . | . | . | . | . | 4 | 52038229 | 52038229 | C | T | exonic | SGCB | . | nonsynonymous SNV | SGCB:NM_000232:exon1:c.C31A:p.Q11K | 4q12 | . | . | 0.091 | T | 0.003 | B | 0.004 | B | 0.030 | U | 1.000 | N | 0.55 | N | -2.28 | D | -0.66 | N | 0.31 | 1.381 | 12.69 | 0.866 | 0.257 | N | -0.008 | T | 0.676 | D | 0.733 | 0 | 3.0 | 0.897 | 0.700 | 0.667 | 0.370 | 10.180 | Deleterious |
| 441 | 4 | 55346393 | G | A | Pathogenic | SRD5A3 | . | . | . | . | . | . | . | . | . | . | 4 | 55346393 | 55346393 | G | A | exonic | SRD5A3 | . | stopgain | SRD5A3:NM_024592:exon1:c.G57A:p.W19X | 4q12 | . | rs398124401 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.125 | 35 | 0.990 | 0.199 | N | . | . | . | . | 0.442 | 0 | 3.95 | 0.897 | 0.917 | 0.578 | 0.809 | 13.030 | Deleterious (DANN) |
| 442 | 4 | 67754019 | A | G | Pathogenic | GNRHR | . | . | . | . | . | . | . | . | . | . | 4 | 67754019 | 67754019 | A | G | exonic | GNRHR | . | nonsynonymous SNV | GNRHR:NM_000406:exon1:c.A317C:p.Q106P,GNRHR:NM_001012763:exon1:c.A317C:p.Q106P | 4q13.2 | . | . | 0.002 | D | 0.999 | D | 0.996 | D | 0.000 | D | 1.000 | D | 2.515 | M | -0.64 | T | -5.49 | D | 0.969 | 3.859 | 23.5 | 0.995 | 0.982 | D | 0.183 | D | 0.552 | D | 0.554 | 0 | 6.17 | 0.991 | 1.061 | 0.981 | 0.877 | 14.774 | Deleterious |
| 443 | 4 | 78364055 | G | A | Pathogenic | FRAS1 | . | . | . | . | . | . | . | . | . | . | 4 | 78364055 | 78364055 | G | A | splicing | FRAS1 | NM_001166133:exon22:c.2722+1G>A,NM_025074:exon22:c.2722+1G>A | . | . | 4q21.21 | . | rs794727365 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.455 | 26.1 | 0.995 | 0.966 | D | . | . | . | . | 0.099 | 0 | 5.6 | 0.917 | 0.953 | 0.973 | 0.968 | 19.619 | Deleterious (FATHMM) |
| 444 | 4 | 78473466 | T | A | Pathogenic | FRAS1 | . | . | . | . | . | . | . | . | . | . | 4 | 78473466 | 78473466 | T | A | exonic | FRAS1 | . | stopgain | FRAS1:NM_025074:exon53:c.T7551A:p.Y2517X | 4q21.21 | . | rs745597204 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 5.639 | 26.6 | 0.941 | 0.288 | N | . | . | . | . | 0.707 | 0 | -6.52 | 0.073 | -0.270 | 0.992 | 0.648 | 17.653 | |
| 445 | 4 | 127938781 | T | A | Pathogenic | MFSD8 | . | . | . | . | . | . | . | . | . | . | 4 | 127938781 | 127938781 | T | A | splicing | MFSD8 | NM_152778:exon8:c.754+2A>T | . | . | 4q28.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 446 | 4 | 158706270 | C | T | Pathogenic | ETFDH | . | . | . | . | . | . | . | . | . | . | 4 | 158706270 | 158706270 | C | T | exonic | ETFDH | . | nonsynonymous SNV | ETFDH:NM_001281738:exon9:c.C1184T:p.P395L,ETFDH:NM_001281737:exon10:c.C1226T:p.P409L,ETFDH:NM_004453:exon11:c.C1367T:p.P456L | 4q32.1 | . | rs398124152 | 0.015 | D | 0.999 | D | 0.929 | D | 0.000 | D | 1 | D | 2.955 | M | -3.54 | D | -9.08 | D | 0.975 | 6.875 | 33 | 0.999 | 0.986 | D | 1.004 | D | 0.922 | D | 0.732 | 0 | 5.89 | 0.871 | 0.892 | 0.713 | 0.244 | 20.236 | Deleterious |
| 447 | 4 | 169424668 | C | G | Pathogenic/Likely pathogenic | NEK1 | . | . | . | . | . | . | . | . | . | . | 4 | 169424668 | 169424668 | C | G | exonic | NEK1 | . | synonymous SNV | NEK1:NM_001199399:exon28:c.C2816C:p.S939S,NEK1:NM_001199400:exon28:c.C2891C:p.S964S,NEK1:NM_012224:exon29:c.C3023C:p.S1008S,NEK1:NM_001199398:exon30:c.C2975C:p.S992S,NEK1:NM_001199397:exon31:c.C3107C:p.S1036S | 4q33 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 448 | 4 | 186274190 | C | T | Pathogenic/Likely pathogenic | F11 | . | . | . | . | . | . | . | . | . | . | 4 | 186274190 | 186274190 | C | T | exonic | F11 | . | stopgain | F11:NM_000128:exon5:c.C400T:p.Q134X | 4q35.2 | . | rs756908183 | . | . | . | . | . | . | 0.061 | N | 1 | A | . | . | . | . | . | . | . | 8.143 | 35 | 0.990 | 0.301 | N | . | . | . | . | 0.487 | 0 | 3.91 | 0.871 | 0.935 | 0.839 | 0.158 | 11.418 | Deleterious (DANN) |
| 449 | 4 | 186274193 | G | T | Pathogenic | F11 | . | . | . | . | . | . | . | . | . | . | 4 | 186274193 | 186274193 | G | T | exonic | F11 | . | stopgain | F11:NM_000128:exon5:c.G403T:p.E135X | 4q35.2 | 0.0008 | rs121965063 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.803 | 36 | 0.997 | 0.867 | D | . | . | . | . | 0.487 | 0 | 4.92 | 0.917 | 1.048 | 0.932 | 0.676 | 9.282 | Deleterious (FATHMM) |
| 450 | 5 | 223509 | C | T | Pathogenic/Likely pathogenic | SDHA | . | . | . | . | . | . | . | . | . | . | 5 | 223509 | 223509 | C | T | exonic | SDHA | . | stopgain | SDHA:NM_001294332:exon2:c.C91T:p.R31X,SDHA:NM_004168:exon2:c.C91T:p.R31X | 5p15.33 | 0.0002 | rs142441643 | . | . | . | . | . | . | 0.000 | U | 1 | A | . | . | . | . | . | . | . | 10.183 | 36 | 0.998 | 0.307 | N | . | . | . | . | 0.732 | 0 | 4.94 | -0.066 | -0.349 | 0.008 | 0.068 | 13.131 | Deleterious (DANN) |
| 451 | 5 | 1212338 | G | A | Pathogenic | SLC6A19 | . | . | . | . | . | . | . | . | . | . | 5 | 1212338 | 1212338 | G | A | exonic | SLC6A19 | . | nonsynonymous SNV | SLC6A19:NM_001003841:exon4:c.G517A:p.D173N | 5p15.33 | 0.0024 | rs121434346 | 0.451 | T | 0.016 | B | 0.05 | B | 0.000 | D | 1.000 | A | 0.99 | L | -0.8 | T | 0.02 | N | 0.184 | 4.006 | 23.6 | 0.980 | 0.919 | D | -0.684 | T | 0.277 | T | 0.403 | 0 | 5.09 | 0.917 | 0.998 | 0.995 | 0.999 | 18.836 | Tolerated |
| 452 | 5 | 13830026 | G | A | Pathogenic/Likely pathogenic | DNAH5 | . | . | . | . | . | . | . | . | . | . | 5 | 13830026 | 13830026 | G | A | exonic | DNAH5 | . | nonsynonymous SNV | DNAH5:NM_001369:exon37:c.G6249T:p.M2083I | 5p15.2 | . | . | 0.001 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.14 | M | 0.98 | T | -3.83 | D | 0.963 | 4.480 | 24.2 | 0.998 | 0.992 | D | -0.269 | T | 0.354 | T | 0.500 | 0 | 5.76 | 0.871 | 0.935 | 0.995 | 0.997 | 19.976 | Tolerated |
| 453 | 5 | 36955540 | C | T | Pathogenic | NIPBL | . | . | . | . | . | . | . | . | . | . | 5 | 36955540 | 36955540 | C | T | exonic | NIPBL | . | stopgain | NIPBL:NM_015384:exon3:c.C133T:p.R45X,NIPBL:NM_133433:exon3:c.C133T:p.R45X | 5p13.2 | . | rs80358367 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.452 | 36 | 0.996 | 0.870 | D | . | . | . | . | 0.732 | 0 | 3.63 | 0.871 | 0.892 | 0.995 | 1.000 | 14.443 | Deleterious (FATHMM) |
| 454 | 5 | 36971037 | G | A | Pathogenic | NIPBL | . | . | . | . | . | . | . | . | . | . | 5 | 36971037 | 36971037 | G | A | splicing | NIPBL | NM_133433:exon7:c.771+1G>A,NM_015384:exon7:c.771+1G>A | . | . | 5p13.2 | . | rs587784048 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.991 | 27.8 | 0.994 | 0.993 | D | . | . | . | . | 0.295 | 0 | 5.58 | 0.917 | 1.048 | 0.997 | 1.000 | 19.517 | Deleterious (FATHMM) |
| 455 | 5 | 36985065 | C | T | Pathogenic | NIPBL | . | . | . | . | . | . | . | . | . | . | 5 | 36985065 | 36985065 | C | T | exonic | NIPBL | . | stopgain | NIPBL:NM_015384:exon10:c.C1885T:p.R629X,NIPBL:NM_133433:exon10:c.C1885T:p.R629X | 5p13.2 | . | rs587783892 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.259 | 35 | 0.997 | 0.209 | N | . | . | . | . | 0.706 | 0 | 3.8 | -0.444 | -0.021 | 0.973 | 0.506 | 7.904 | Deleterious (DANN) |
| 456 | 5 | 36985782 | C | T | Pathogenic | NIPBL | . | . | . | . | . | . | . | . | . | . | 5 | 36985782 | 36985782 | C | T | exonic | NIPBL | . | stopgain | NIPBL:NM_015384:exon10:c.C2602T:p.R868X,NIPBL:NM_133433:exon10:c.C2602T:p.R868X | 5p13.2 | . | rs398124466 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.095 | 36 | 0.996 | 0.875 | D | . | . | . | . | 0.706 | 0 | 3.6 | 0.067 | 0.031 | 1.000 | 1.000 | 13.180 | Deleterious (FATHMM) |
| 457 | 5 | 37051836 | G | C | Pathogenic/Likely pathogenic | NIPBL | . | . | . | . | . | . | . | . | . | . | 5 | 37051836 | 37051836 | G | C | exonic | NIPBL | . | nonsynonymous SNV | NIPBL:NM_015384:exon41:c.G7012C:p.A2338P,NIPBL:NM_133433:exon41:c.G7012C:p.A2338P | 5p13.2 | . | rs587784030 | 0.002 | D | 0.98 | D | 0.949 | D | 0.000 | D | 1.000 | D | 2.92 | M | -4.72 | D | -4.42 | D | 0.933 | 6.231 | 28.8 | 0.998 | 0.969 | D | 1.090 | D | 0.956 | D | 0.732 | 0 | 5.69 | 0.917 | 1.048 | 0.999 | 1.000 | 14.635 | Deleterious |
| 458 | 5 | 37052522 | C | T | Pathogenic | NIPBL | . | . | . | . | . | . | . | . | . | . | 5 | 37052522 | 37052522 | C | T | exonic | NIPBL | . | stopgain | NIPBL:NM_015384:exon42:c.C7219T:p.R2407X,NIPBL:NM_133433:exon42:c.C7219T:p.R2407X | 5p13.2 | . | rs398124471 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.641 | 52 | 0.998 | 0.947 | D | . | . | . | . | 0.732 | 0 | 6.02 | 0.871 | 0.935 | 0.999 | 1.000 | 20.537 | Deleterious (FATHMM) |
| 459 | 5 | 37064854 | C | T | Pathogenic | NIPBL|C5orf42 | . | . | . | . | . | . | . | . | . | . | 5 | 37064854 | 37064854 | C | T | exonic | NIPBL | . | stopgain | NIPBL:NM_133433:exon47:c.C8377T:p.R2793X | 5p13.2 | . | rs398124474 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 13.699 | 43 | 0.995 | 0.973 | D | . | . | . | . | 0.719 | 0 | 4.96 | 0.871 | 0.003 | 1.000 | 1.000 | 16.032 | Deleterious (FATHMM) |
| 460 | 5 | 37120306 | C | T | Pathogenic | C5orf42 | . | . | . | . | . | . | . | . | . | . | 5 | 37120306 | 37120306 | C | T | exonic | C5orf42 | . | synonymous SNV | C5orf42:NM_023073:exon49:c.C9058A:p.R3020R | 5p13.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 461 | 5 | 37157810 | T | A | Pathogenic | C5orf42 | . | . | . | . | . | . | . | . | . | . | 5 | 37157810 | 37157810 | T | A | exonic | C5orf42 | . | synonymous SNV | C5orf42:NM_023073:exon40:c.T7817T:p.L2606L | 5p13.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 462 | 5 | 37198775 | C | T | Pathogenic | C5orf42 | . | . | . | . | . | . | . | . | . | . | 5 | 37198775 | 37198775 | C | T | exonic | C5orf42 | . | nonsynonymous SNV | C5orf42:NM_023073:exon20:c.C3599A:p.A1200E | 5p13.2 | 7.7e-05 | rs141153181 | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 0.895 | L | 1.05 | T | -2.94 | D | 0.923 | 6.250 | 28.9 | 0.995 | 0.990 | D | -0.747 | T | 0.194 | T | 0.660 | 0 | 5.28 | 0.917 | 0.953 | 0.976 | 0.618 | 19.272 | Tolerated |
| 463 | 5 | 37224679 | C | T | Pathogenic | C5orf42 | . | . | . | . | . | . | . | . | . | . | 5 | 37224679 | 37224679 | C | T | exonic | C5orf42 | . | synonymous SNV | C5orf42:NM_023073:exon13:c.C2353A:p.R785R | 5p13.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 464 | 5 | 68296301 | C | T | Pathogenic | PIK3R1 | . | . | . | . | . | . | . | . | . | . | 5 | 68296301 | 68296301 | C | T | exonic | PIK3R1 | . | nonsynonymous SNV | PIK3R1:NM_001242466:exon8:c.C856T:p.R286W,PIK3R1:NM_181504:exon9:c.C1135T:p.R379W,PIK3R1:NM_181524:exon9:c.C1045T:p.R349W,PIK3R1:NM_181523:exon15:c.C1945T:p.R649W | 5q13.1 | . | rs397515453 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.28 | H | -5.7 | D | -7.05 | D | 0.985 | 8.420 | 35 | 0.999 | 0.978 | D | 0.988 | D | 0.989 | D | 0.707 | 0 | 5.15 | 0.871 | 0.935 | 0.998 | 0.999 | 18.808 | Deleterious |
| 465 | 5 | 69433088 | C | T | Pathogenic | MARVELD2 | . | . | . | . | . | . | . | . | . | . | 5 | 69433088 | 69433088 | C | T | exonic | MARVELD2 | . | stopgain | MARVELD2:NM_001244734:exon4:c.C1462T:p.R488X,MARVELD2:NM_001038603:exon5:c.C1498T:p.R500X | 5q13.2 | . | rs118203957 | . | . | . | . | . | . | 0.026 | N | 1 | A | . | . | . | . | . | . | . | 14.584 | 46 | 0.997 | 0.906 | D | . | . | . | . | 0.707 | 0 | 4.8 | -0.058 | 0.935 | 0.679 | 0.534 | 15.332 | Deleterious (FATHMM) |
| 466 | 5 | 71599672 | G | C | Pathogenic | MCCC2 | . | . | . | . | . | . | . | . | . | . | 5 | 71599672 | 71599672 | G | C | exonic | MCCC2 | . | nonsynonymous SNV | MCCC2:NM_022132:exon4:c.G295C:p.E99Q | 5q13.2 | 0.0002 | rs119103219 | 0.0 | D | 0.959 | D | 0.618 | P | 0.000 | D | 1 | A | 3.87 | H | -5.72 | D | -2.82 | D | 0.928 | 6.217 | 28.7 | 0.998 | 0.989 | D | 1.083 | D | 0.981 | D | 0.722 | 0 | 6.02 | 0.917 | 1.022 | 1.000 | 0.998 | 19.306 | Deleterious |
| 467 | 5 | 71604412 | C | T | Pathogenic | MCCC2 | . | . | . | . | . | . | . | . | . | . | 5 | 71604412 | 71604412 | C | T | exonic | MCCC2 | . | nonsynonymous SNV | MCCC2:NM_022132:exon6:c.C568T:p.H190Y | 5q13.2 | . | rs773774134 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 3.825 | H | -4.61 | D | -5.73 | D | 0.95 | 6.471 | 29.9 | 0.998 | 0.987 | D | 1.083 | D | 0.973 | D | 0.706 | 0 | 5.57 | 0.871 | 0.935 | 0.998 | 0.996 | 18.736 | Deleterious |
| 468 | 5 | 74718804 | C | T | Pathogenic | HEXB | . | . | . | . | . | . | . | . | . | . | 5 | 74718804 | 74718804 | C | T | exonic | HEXB | . | nonsynonymous SNV | HEXB:NM_000521:exon11:c.C1250T:p.P417L,HEXB:NM_001292004:exon11:c.C575T:p.P192L | 5q13.3 | 0.0005 | rs28942073 | 0.018 | D | 0.893 | P | 0.633 | P | 0.001 | D | 0.998 | A | 3.185 | M | -2.68 | D | -6.36 | D | 0.773 | 3.325 | 22.9 | 0.992 | 0.833 | D | 0.922 | D | 0.816 | D | 0.706 | 0 | 3.21 | 0.871 | 0.044 | 0.467 | 0.364 | 15.594 | Deleterious |
| 469 | 5 | 88751881 | C | T | Pathogenic | MEF2C | . | . | . | . | . | . | . | . | . | . | 5 | 88751881 | 88751881 | C | T | exonic | MEF2C | . | synonymous SNV | MEF2C:NM_001193348:exon3:c.C421A:p.R141R,MEF2C:NM_001193349:exon3:c.C421A:p.R141R,MEF2C:NM_001308002:exon4:c.C565A:p.R189R,MEF2C:NM_001193350:exon5:c.C565A:p.R189R,MEF2C:NM_002397:exon5:c.C565A:p.R189R,MEF2C:NM_001131005:exon6:c.C559A:p.R187R,MEF2C:NM_001193347:exon7:c.C619A:p.R207R | 5q14.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 470 | 5 | 88823787 | T | C | Pathogenic | MEF2C | . | . | . | . | . | . | . | . | . | . | 5 | 88823787 | 88823787 | T | C | exonic | MEF2C | . | nonsynonymous SNV | MEF2C:NM_001193348:exon1:c.T2G:p.M1R,MEF2C:NM_001193349:exon1:c.T2G:p.M1R,MEF2C:NM_001308002:exon1:c.T2G:p.M1R,MEF2C:NM_001193350:exon2:c.T2G:p.M1R,MEF2C:NM_002397:exon2:c.T2G:p.M1R,MEF2C:NM_001131005:exon3:c.T2G:p.M1R,MEF2C:NM_001193347:exon3:c.T2G:p.M1R | 5q14.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 0.992 | D | . | . | -1.33 | T | -5.12 | D | 0.886 | 4.863 | 24.9 | 0.987 | 0.985 | D | 1.048 | D | 0.909 | D | 0.507 | 0 | 5.12 | 1.062 | 1.140 | 1.000 | 1.000 | 15.214 | Deleterious |
| 471 | 5 | 112754960 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112754960 | 112754960 | C | T | exonic | APC | . | stopgain | APC:NM_000038:exon2:c.C70T:p.R24X,APC:NM_001127510:exon3:c.C70T:p.R24X | 5q22.2 | 7.7e-05 | rs145945630 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.655 | 37 | 0.997 | 0.911 | D | . | . | . | . | 0.706 | 0 | 5.67 | 0.871 | 0.892 | 1.000 | 1.000 | 19.753 | Deleterious (FATHMM) |
| 472 | 5 | 112766410 | G | T | Pathogenic/Likely pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112766410 | 112766410 | G | T | exonic | APC | . | stopgain | APC:NM_001127511:exon2:c.G250T:p.E84X,APC:NM_000038:exon3:c.G220T:p.E74X,APC:NM_001127510:exon4:c.G220T:p.E74X | 5q22.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.111 | 37 | 0.997 | 0.998 | D | . | . | . | . | 0.651 | 0 | 5.65 | 0.917 | 0.902 | 0.992 | 0.997 | 19.716 | Deleterious (FATHMM) |
| 473 | 5 | 112780895 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112780895 | 112780895 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon5:c.C667T:p.R223X,APC:NM_000038:exon6:c.C637T:p.R213X,APC:NM_001127510:exon7:c.C637T:p.R213X | 5q22.2 | . | rs587781392 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.992 | 38 | 0.998 | 0.979 | D | . | . | . | . | 0.732 | 0 | 3.74 | -0.048 | 0.036 | 0.989 | 0.978 | 14.256 | Deleterious (FATHMM) |
| 474 | 5 | 112780904 | G | A | Pathogenic/Likely pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112780904 | 112780904 | G | A | splicing | APC | NM_001127511:exon5:c.675+1G>A,NM_000038:exon6:c.645+1G>A,NM_001127510:exon7:c.645+1G>A | . | . | 5q22.2 | . | rs863225370 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.725 | 26.9 | 0.996 | 0.998 | D | . | . | . | . | 0.164 | 0 | 5.56 | 0.917 | 1.048 | 0.975 | 0.898 | 19.535 | Deleterious (FATHMM) |
| 475 | 5 | 112792446 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112792446 | 112792446 | C | T | exonic | APC | . | stopgain | APC:NM_000038:exon7:c.C646T:p.R216X,APC:NM_001127510:exon8:c.C646T:p.R216X | 5q22.2 | . | rs62619935 | . | . | . | . | . | . | 0.232 | N | 1 | A | . | . | . | . | . | . | . | 10.578 | 36 | 0.997 | 0.672 | D | . | . | . | . | 0.732 | 0 | 2.99 | 0.033 | 0.059 | 0.984 | 0.991 | 1.709 | Deleterious (FATHMM) |
| 476 | 5 | 112815507 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112815507 | 112815507 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon7:c.C793T:p.R265X,APC:NM_000038:exon9:c.C847T:p.R283X,APC:NM_001127510:exon10:c.C847T:p.R283X | 5q22.2 | . | rs786201856 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.711 | 40 | 0.998 | 0.984 | D | . | . | . | . | 0.722 | 0 | 4.22 | 0.871 | 0.852 | 0.352 | 0.969 | 12.977 | Deleterious (FATHMM) |
| 477 | 5 | 112815564 | C | T | Pathogenic, other | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112815564 | 112815564 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon7:c.C850T:p.R284X,APC:NM_000038:exon9:c.C904T:p.R302X,APC:NM_001127510:exon10:c.C904T:p.R302X | 5q22.2 | . | rs137854568 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.589 | 39 | 0.998 | 0.968 | D | . | . | . | . | 0.722 | 0 | 5.11 | 0.871 | 0.852 | 1.000 | 1.000 | 18.903 | Deleterious (FATHMM) |
| 478 | 5 | 112819026 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112819026 | 112819026 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon8:c.C940T:p.R314X,APC:NM_000038:exon10:c.C994T:p.R332X,APC:NM_001127510:exon11:c.C994T:p.R332X | 5q22.2 | . | rs775126020 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.920 | 37 | 0.997 | 0.957 | D | . | . | . | . | 0.719 | 0 | 4.84 | 0.871 | 0.935 | 0.999 | 0.998 | 13.996 | Deleterious (FATHMM) |
| 479 | 5 | 112819245 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112819245 | 112819245 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon8:c.C1159T:p.R387X,APC:NM_000038:exon10:c.C1213T:p.R405X,APC:NM_001127510:exon11:c.C1213T:p.R405X | 5q22.2 | . | rs587779780 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.773 | 38 | 0.997 | 0.960 | D | . | . | . | . | 0.563 | 0 | 5.94 | 0.871 | 0.935 | 0.999 | 1.000 | 20.419 | Deleterious (FATHMM) |
| 480 | 5 | 112819347 | A | G | Pathogenic/Likely pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112819347 | 112819347 | A | G | intronic | APC | . | . | . | 5q22.2 | . | rs863225311 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 481 | 5 | 112828889 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112828889 | 112828889 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon12:c.C1606T:p.R536X,APC:NM_000038:exon14:c.C1660T:p.R554X,APC:NM_001127510:exon15:c.C1660T:p.R554X | 5q22.2 | . | rs137854573 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.660 | 36 | 0.997 | 0.897 | D | . | . | . | . | 0.732 | 0 | 1.6 | 0.871 | 0.852 | 1.000 | 1.000 | 16.691 | Deleterious (FATHMM) |
| 482 | 5 | 112838007 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112838007 | 112838007 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon14:c.C2359T:p.R787X,APC:NM_000038:exon16:c.C2413T:p.R805X,APC:NM_001127510:exon17:c.C2413T:p.R805X | 5q22.2 | . | rs587779783 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 9.717 | 36 | 0.997 | 0.826 | D | . | . | . | . | 0.707 | 0 | 4.36 | 0.871 | 0.044 | 0.980 | 0.999 | 14.729 | Deleterious (FATHMM) |
| 483 | 5 | 112838220 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112838220 | 112838220 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon14:c.C2572T:p.R858X,APC:NM_000038:exon16:c.C2626T:p.R876X,APC:NM_001127510:exon17:c.C2626T:p.R876X | 5q22.2 | . | rs121913333 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 10.801 | 36 | 0.998 | 0.951 | D | . | . | . | . | 0.707 | 0 | 4.09 | 0.871 | 0.935 | 0.892 | 0.999 | 14.864 | Deleterious (FATHMM) |
| 484 | 5 | 112838399 | C | A | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112838399 | 112838399 | C | A | exonic | APC | . | stopgain | APC:NM_001127511:exon14:c.C2751A:p.Y917X,APC:NM_000038:exon16:c.C2805A:p.Y935X,APC:NM_001127510:exon17:c.C2805A:p.Y935X | 5q22.2 | . | rs137854575 | . | . | . | . | . | . | 0.003 | N | 1 | D | . | . | . | . | . | . | . | 10.828 | 36 | 0.996 | 0.986 | D | . | . | . | . | 0.707 | 0 | 4.9 | 0.871 | 0.935 | 0.985 | 0.905 | 13.177 | Deleterious (FATHMM) |
| 485 | 5 | 112838682 | A | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112838682 | 112838682 | A | T | exonic | APC | . | stopgain | APC:NM_001127511:exon14:c.A3034T:p.K1012X,APC:NM_000038:exon16:c.A3088T:p.K1030X,APC:NM_001127510:exon17:c.A3088T:p.K1030X | 5q22.2 | . | rs587779786 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 12.303 | 39 | 0.996 | 0.991 | D | . | . | . | . | 0.707 | 0 | 5.76 | 1.062 | 1.199 | 0.990 | 1.000 | 16.068 | Deleterious (FATHMM) |
| 486 | 5 | 112839942 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112839942 | 112839942 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon14:c.C4294T:p.R1432X,APC:NM_000038:exon16:c.C4348T:p.R1450X,APC:NM_001127510:exon17:c.C4348T:p.R1450X | 5q22.2 | . | rs121913332 | . | . | . | . | . | . | 0.153 | N | 1 | D | . | . | . | . | . | . | . | 12.165 | 38 | 0.997 | 0.903 | D | . | . | . | . | 0.707 | 0 | 4.2 | -0.662 | 0.020 | 0.108 | 0.995 | 14.037 | Deleterious (FATHMM) |
| 487 | 5 | 112842303 | C | T | Pathogenic | APC | . | . | . | . | . | . | . | . | . | . | 5 | 112842303 | 112842303 | C | T | exonic | APC | . | stopgain | APC:NM_001127511:exon14:c.C6655T:p.R2219X,APC:NM_000038:exon16:c.C6709T:p.R2237X,APC:NM_001127510:exon17:c.C6709T:p.R2237X | 5q22.2 | . | rs768922431 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 13.568 | 42 | 0.996 | 0.845 | D | . | . | . | . | 0.732 | 0 | 5.14 | 0.871 | 0.935 | 0.985 | 1.000 | 16.408 | Deleterious (FATHMM) |
| 488 | 5 | 126552059 | G | C | Pathogenic/Likely pathogenic | ALDH7A1 | . | . | . | . | . | . | . | . | . | . | 5 | 126552059 | 126552059 | G | C | exonic | ALDH7A1 | . | synonymous SNV | ALDH7A1:NM_001202404:exon12:c.G1168G:p.E390E,ALDH7A1:NM_001182:exon14:c.G1279G:p.E427E,ALDH7A1:NM_001201377:exon14:c.G1195G:p.E399E | 5q23.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 489 | 5 | 132370015 | G | T | Pathogenic/Likely pathogenic, not provided | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132370015 | 132370015 | G | T | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_001308122:exon1:c.G43T:p.G15W,SLC22A5:NM_003060:exon1:c.G43T:p.G15W | 5q31.1 | . | rs267607052 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.095 | H | -1.86 | D | -6.75 | D | 0.936 | 6.589 | 31 | 0.996 | 0.993 | D | 1.012 | D | 0.858 | D | 0.652 | 0 | 4.99 | 0.917 | 0.949 | 1.000 | 1.000 | 18.275 | Deleterious |
| 490 | 5 | 132370108 | C | T | Pathogenic | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132370108 | 132370108 | C | T | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_001308122:exon1:c.C136T:p.P46S,SLC22A5:NM_003060:exon1:c.C136T:p.P46S | 5q31.1 | 0.0006 | rs202088921 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 4.05 | H | -3.23 | D | -6.85 | D | 0.951 | 5.702 | 26.8 | 0.999 | 0.985 | D | 1.083 | D | 0.938 | D | 0.652 | 0 | 5.32 | 0.871 | 0.931 | 0.964 | 0.848 | 19.000 | Deleterious |
| 491 | 5 | 132370220 | G | T | Pathogenic | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132370220 | 132370220 | G | T | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_001308122:exon1:c.G248T:p.R83L,SLC22A5:NM_003060:exon1:c.G248T:p.R83L | 5q31.1 | . | rs72552726 | 0.0 | D | 1.0 | D | 0.995 | D | 0.000 | D | 1.000 | D | 2.3 | M | -0.94 | T | -5.78 | D | 0.912 | 6.763 | 32 | 0.998 | 0.945 | D | 0.049 | D | 0.618 | D | 0.455 | 0 | 5.46 | 0.917 | 1.027 | 0.976 | 0.996 | 19.300 | Deleterious |
| 492 | 5 | 132370336 | G | T | Pathogenic | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132370336 | 132370336 | G | T | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_001308122:exon1:c.G364T:p.D122Y,SLC22A5:NM_003060:exon1:c.G364T:p.D122Y | 5q31.1 | 0.0002 | rs201082652 | 0.001 | D | 1.0 | D | 0.987 | D | 0.019 | N | 1.000 | D | 2.8 | M | -0.83 | T | -5.87 | D | 0.901 | 5.526 | 26.3 | 0.994 | 0.906 | D | 0.501 | D | 0.691 | D | 0.658 | 0 | 5.46 | 0.917 | 1.045 | 0.985 | 0.960 | 14.177 | Deleterious |
| 493 | 5 | 132384281 | A | G | Pathogenic/Likely pathogenic, not provided | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132384281 | 132384281 | A | G | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_003060:exon3:c.A632G:p.Y211C,SLC22A5:NM_001308122:exon4:c.A704G:p.Y235C | 5q31.1 | . | rs121908888 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 2.705 | M | -0.85 | T | -8.16 | D | 0.991 | 5.933 | 27.6 | 0.998 | 0.992 | D | 0.390 | D | 0.620 | D | 0.615 | 0 | 5.58 | 1.062 | 1.199 | 1.000 | 0.992 | 15.748 | Deleterious |
| 494 | 5 | 132390830 | C | T | Pathogenic/Likely pathogenic, not provided | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132390830 | 132390830 | C | T | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_003060:exon7:c.C1193T:p.P398L,SLC22A5:NM_001308122:exon8:c.C1265T:p.P422L | 5q31.1 | 0.0002 | rs144547521 | 0.003 | D | 0.96 | D | 0.833 | P | 0.000 | D | 1 | D | 2.39 | M | -0.8 | T | -6.81 | D | 0.879 | 7.101 | 33 | 0.999 | 0.942 | D | 0.116 | D | 0.575 | D | 0.615 | 0 | 6.17 | 0.871 | 0.935 | 0.934 | 0.940 | 20.879 | Deleterious |
| 495 | 5 | 132390832 | C | T | Pathogenic/Likely pathogenic, not provided | SLC22A5 | . | . | . | . | . | . | . | . | . | . | 5 | 132390832 | 132390832 | C | T | exonic | SLC22A5 | . | nonsynonymous SNV | SLC22A5:NM_003060:exon7:c.C1195T:p.R399W,SLC22A5:NM_001308122:exon8:c.C1267T:p.R423W | 5q31.1 | . | rs267607054 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.455 | H | -1.82 | D | -7.68 | D | 0.995 | 8.018 | 35 | 0.999 | 0.843 | D | 0.980 | D | 0.867 | D | 0.615 | 0 | 6.17 | 0.871 | 0.935 | 0.953 | 0.986 | 15.581 | Deleterious |
| 496 | 5 | 132589778 | C | T | Pathogenic | RAD50 | . | . | . | . | . | . | . | . | . | . | 5 | 132589778 | 132589778 | C | T | exonic | RAD50 | . | stopgain | RAD50:NM_005732:exon9:c.C1393T:p.Q465X | 5q31.1 | . | rs587780150 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.922 | 40 | 0.997 | 0.947 | D | . | . | . | . | 0.732 | 0 | 5.51 | 0.871 | 0.935 | 0.971 | 1.000 | 14.089 | Deleterious (FATHMM) |
| 497 | 5 | 132594950 | C | G | Pathogenic | RAD50 | . | . | . | . | . | . | . | . | . | . | 5 | 132594950 | 132594950 | C | G | exonic | RAD50 | . | stopgain | RAD50:NM_005732:exon12:c.C1875G:p.Y625X | 5q31.1 | . | rs149201802 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.446 | 36 | 0.997 | 0.893 | D | . | . | . | . | 0.732 | 0 | 3.6 | 0.021 | 0.125 | 0.997 | 0.998 | 9.551 | Deleterious (FATHMM) |
| 498 | 5 | 132595033 | C | A | Pathogenic | RAD50 | . | . | . | . | . | . | . | . | . | . | 5 | 132595033 | 132595033 | C | A | exonic | RAD50 | . | stopgain | RAD50:NM_005732:exon12:c.C1958A:p.S653X | 5q31.1 | . | rs587781904 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.194 | 41 | 0.996 | 0.978 | D | . | . | . | . | 0.732 | 0 | 5.94 | 0.871 | 0.935 | 0.997 | 0.995 | 20.363 | Deleterious (FATHMM) |
| 499 | 5 | 132638158 | C | T | Pathogenic | RAD50|TH2LCRR | . | . | . | . | . | . | . | . | . | . | 5 | 132638158 | 132638158 | C | T | exonic | RAD50 | . | stopgain | RAD50:NM_005732:exon23:c.C3553T:p.R1185X | 5q31.1 | . | rs778555849 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.489 | 42 | 0.997 | 0.896 | D | . | . | . | . | 0.732 | 0 | 2.84 | -0.058 | 0.935 | 0.996 | 0.998 | 15.833 | Deleterious (FATHMM) |
| 500 | 5 | 132638203 | C | T | Pathogenic | RAD50|TH2LCRR | . | . | . | . | . | . | . | . | . | . | 5 | 132638203 | 132638203 | C | T | exonic | RAD50 | . | stopgain | RAD50:NM_005732:exon23:c.C3598T:p.R1200X | 5q31.1 | . | rs750586158 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.816 | 48 | 0.998 | 0.939 | D | . | . | . | . | 0.732 | 0 | 5.04 | 0.871 | 0.935 | 1.000 | 1.000 | 14.442 | Deleterious (FATHMM) |
| 501 | 5 | 149010272 | C | T | Pathogenic | SH3TC2 | . | . | . | . | . | . | . | . | . | . | 5 | 149010272 | 149010272 | C | T | exonic | SH3TC2 | . | synonymous SNV | SH3TC2:NM_024577:exon14:c.C3325A:p.R1109R | 5q32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 502 | 5 | 149026872 | C | T | Pathogenic | SH3TC2 | . | . | . | . | . | . | . | . | . | . | 5 | 149026872 | 149026872 | C | T | exonic | SH3TC2 | . | synonymous SNV | SH3TC2:NM_024577:exon11:c.C2860A:p.R954R | 5q32 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 503 | 5 | 149980428 | C | T | Pathogenic | SLC26A2 | . | . | . | . | . | . | . | . | . | . | 5 | 149980428 | 149980428 | C | T | exonic | SLC26A2 | . | nonsynonymous SNV | SLC26A2:NM_000112:exon3:c.C835T:p.R279W | 5q32 | 0.0012 | rs104893915 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | A | 3.425 | M | -3.31 | D | -7.43 | D | 0.95 | 6.825 | 32 | 0.999 | 0.878 | D | 1.074 | D | 0.924 | D | 0.706 | 0 | 5.12 | 0.871 | 0.892 | 0.984 | 0.996 | 18.611 | Deleterious |
| 504 | 5 | 149981550 | T | A | Pathogenic | SLC26A2 | . | . | . | . | . | . | . | . | . | . | 5 | 149981550 | 149981550 | T | A | exonic | SLC26A2 | . | nonsynonymous SNV | SLC26A2:NM_000112:exon3:c.T1957A:p.C653S | 5q32 | 0.0002 | rs104893924 | 0.008 | D | 1.0 | D | 0.993 | D | 0.000 | D | 1 | A | 2.895 | M | -2.55 | D | -7.41 | D | 0.88 | 4.798 | 24.8 | 0.993 | 0.998 | D | 0.872 | D | 0.842 | D | 0.706 | 0 | 5.97 | 0.991 | 1.061 | 1.000 | 0.998 | 16.450 | Deleterious |
| 505 | 5 | 150125571 | C | T | Pathogenic | PDGFRB | . | . | . | . | . | . | . | . | . | . | 5 | 150125571 | 150125571 | C | T | exonic | PDGFRB | . | nonsynonymous SNV | PDGFRB:NM_002609:exon12:c.C1681A:p.R561S | 5q32 | . | . | 0.001 | D | 1.0 | D | 0.989 | D | 0.000 | D | 1 | D | 2.645 | M | -3.48 | D | -3.69 | D | 0.805 | 7.269 | 34 | 0.998 | 0.979 | D | 1.035 | D | 0.912 | D | 0.615 | 0 | 4.58 | 0.917 | 1.048 | 0.989 | 0.987 | 17.923 | Deleterious |
| 506 | 5 | 157468728 | C | A | Pathogenic | NIPAL4 | . | . | . | . | . | . | . | . | . | . | 5 | 157468728 | 157468728 | C | A | exonic | NIPAL4 | . | nonsynonymous SNV | NIPAL4:NM_001172292:exon3:c.C470A:p.A157D,NIPAL4:NM_001099287:exon4:c.C527A:p.A176D | 5q33.3 | 0.0014 | rs199422217 | 0.082 | T | 0.782 | P | 0.504 | P | 0.001 | D | 1 | A | 2.11 | M | -2.69 | D | -3.37 | D | 0.957 | 6.366 | 29.4 | 0.996 | 0.864 | D | 0.512 | D | 0.676 | D | 0.554 | 0 | 3.86 | 0.033 | 0.049 | 0.993 | 0.998 | 8.582 | Deleterious |
| 507 | 5 | 162095551 | G | A | Pathogenic/Likely pathogenic | GABRG2 | . | . | . | . | . | . | . | . | . | . | 5 | 162095551 | 162095551 | G | A | exonic | GABRG2 | . | nonsynonymous SNV | GABRG2:NM_000816:exon3:c.G316A:p.A106T,GABRG2:NM_198903:exon3:c.G316A:p.A106T,GABRG2:NM_198904:exon3:c.G316A:p.A106T | 5q34 | . | rs796052505 | 0.855 | T | 0.785 | P | 0.325 | B | 0.000 | D | 1 | D | 0.17 | N | -1.12 | T | -0.01 | N | 0.733 | 5.640 | 26.6 | 0.985 | 0.968 | D | -0.481 | T | 0.290 | T | 0.554 | 0 | 6.07 | 0.917 | 1.048 | 1.000 | 0.910 | 20.644 | Tolerated |
| 508 | 5 | 177210230 | C | T | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177210230 | 177210230 | C | T | exonic | NSD1 | . | stopgain | NSD1:NM_022455:exon5:c.C1831T:p.R611X,NSD1:NM_172349:exon6:c.C1024T:p.R342X | 5q35.3 | . | rs587784077 | . | . | . | . | . | . | 0.013 | N | 1 | A | . | . | . | . | . | . | . | 6.380 | 29.5 | 0.995 | 0.126 | N | . | . | . | . | 0.707 | 0 | 3.57 | 0.871 | 0.044 | 0.081 | 0.041 | 12.604 | Deleterious (DANN) |
| 509 | 5 | 177246710 | C | T | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177246710 | 177246710 | C | T | exonic | NSD1 | . | stopgain | NSD1:NM_022455:exon10:c.C4411T:p.R1471X,NSD1:NM_172349:exon11:c.C3604T:p.R1202X | 5q35.3 | . | rs570278338 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.832 | 48 | 0.998 | 0.886 | D | . | . | . | . | 0.707 | 0 | 5.65 | 0.871 | 0.935 | 0.993 | 0.996 | 16.999 | Deleterious (FATHMM) |
| 510 | 5 | 177282523 | G | A | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177282523 | 177282523 | G | A | exonic | NSD1 | . | nonsynonymous SNV | NSD1:NM_022455:exon19:c.G5951A:p.R1984Q,NSD1:NM_172349:exon20:c.G5144A:p.R1715Q | 5q35.3 | . | rs587784169 | 0.0 | D | 1.0 | D | 0.991 | D | 0.000 | D | 1 | D | 3.965 | H | -3.03 | D | -3.59 | D | 0.979 | 7.940 | 35 | 1.000 | 0.994 | D | 1.059 | D | 0.928 | D | 0.707 | 0 | 5.77 | 0.917 | 1.048 | 0.999 | 0.944 | 19.958 | Deleterious |
| 511 | 5 | 177283790 | C | T | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177283790 | 177283790 | C | T | exonic | NSD1 | . | stopgain | NSD1:NM_022455:exon20:c.C6013T:p.R2005X,NSD1:NM_172349:exon21:c.C5206T:p.R1736X | 5q35.3 | . | rs587784173 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.703 | 52 | 0.998 | 0.964 | D | . | . | . | . | 0.707 | 0 | 4.5 | 0.871 | 0.892 | 0.956 | 0.996 | 15.282 | Deleterious (FATHMM) |
| 512 | 5 | 177283791 | G | A | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177283791 | 177283791 | G | A | exonic | NSD1 | . | nonsynonymous SNV | NSD1:NM_022455:exon20:c.G6014A:p.R2005Q,NSD1:NM_172349:exon21:c.G5207A:p.R1736Q | 5q35.3 | . | rs587784174 | 0.004 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 2.21 | M | -2.48 | D | -3.47 | D | 0.926 | 7.902 | 35 | 1.000 | 0.993 | D | 0.766 | D | 0.817 | D | 0.707 | 0 | 5.42 | 0.917 | 0.998 | 0.964 | 0.996 | 19.595 | Deleterious |
| 513 | 5 | 177283826 | C | T | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177283826 | 177283826 | C | T | exonic | NSD1 | . | nonsynonymous SNV | NSD1:NM_022455:exon20:c.C6049T:p.R2017W,NSD1:NM_172349:exon21:c.C5242T:p.R1748W | 5q35.3 | . | rs587784176 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.89 | H | -3.47 | D | -7.2 | D | 0.972 | 8.539 | 35 | 0.999 | 0.978 | D | 1.079 | D | 0.963 | D | 0.707 | 0 | 5.42 | 0.871 | 0.892 | 0.999 | 0.978 | 19.595 | Deleterious |
| 514 | 5 | 177283827 | G | A | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177283827 | 177283827 | G | A | exonic | NSD1 | . | nonsynonymous SNV | NSD1:NM_022455:exon20:c.G6050A:p.R2017Q,NSD1:NM_172349:exon21:c.G5243A:p.R1748Q | 5q35.3 | . | rs587784177 | 0.006 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 4.34 | H | -3.42 | D | -3.6 | D | 0.966 | 7.969 | 35 | 1.000 | 0.993 | D | 1.093 | D | 0.955 | D | 0.707 | 0 | 5.42 | 0.917 | 0.998 | 0.999 | 0.970 | 19.595 | Deleterious |
| 515 | 5 | 177292044 | C | T | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177292044 | 177292044 | C | T | exonic | NSD1 | . | stopgain | NSD1:NM_022455:exon22:c.C6349T:p.R2117X,NSD1:NM_172349:exon23:c.C5542T:p.R1848X | 5q35.3 | . | rs587784190 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.634 | 42 | 0.998 | 0.783 | D | . | . | . | . | 0.707 | 0 | 2.45 | -0.639 | -0.136 | 0.988 | 0.987 | 14.384 | Deleterious (FATHMM) |
| 516 | 5 | 177292149 | C | T | Pathogenic | NSD1 | . | . | . | . | . | . | . | . | . | . | 5 | 177292149 | 177292149 | C | T | exonic | NSD1 | . | stopgain | NSD1:NM_022455:exon22:c.C6454T:p.R2152X,NSD1:NM_172349:exon23:c.C5647T:p.R1883X | 5q35.3 | . | rs587784199 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 13.537 | 42 | 0.995 | 0.905 | D | . | . | . | . | 0.707 | 0 | 0.909 | -0.058 | 0.847 | 0.982 | 1.000 | 15.133 | Deleterious (FATHMM) |
| 517 | 5 | 177404231 | C | A | Pathogenic | F12|SLC34A1 | . | . | . | . | . | . | . | . | . | . | 5 | 177404231 | 177404231 | C | A | exonic | F12 | . | nonsynonymous SNV | F12:NM_000505:exon9:c.C983T:p.T328M | 5q35.3 | . | . | 0.011 | D | 0.999 | D | 0.791 | P | 0.241 | N | 1 | N | 1.24 | L | -2.55 | D | -0.94 | N | 0.337 | 4.631 | 24.5 | 0.998 | 0.763 | D | -0.121 | T | 0.706 | D | 0.455 | 0 | 4.06 | -0.485 | 0.974 | 0.001 | 0.003 | 12.049 | Deleterious |
| 518 | 5 | 179836445 | C | T | Pathogenic/Likely pathogenic | SQSTM1 | . | . | . | . | . | . | . | . | . | . | 5 | 179836445 | 179836445 | C | T | exonic | SQSTM1 | . | nonsynonymous SNV | SQSTM1:NM_003900:exon8:c.C1175T:p.P392L,SQSTM1:NM_001142298:exon9:c.C923T:p.P308L,SQSTM1:NM_001142299:exon9:c.C923T:p.P308L | 5q35.3 | 0.0015 | rs104893941 | 0.002 | D | 0.988 | D | 0.3 | B | 0.000 | N | 1 | A | 1.52 | L | -3.92 | D | -6.74 | D | 0.817 | 7.325 | 34 | 0.996 | 0.996 | D | 0.578 | D | 0.634 | D | 0.646 | 0 | 4.78 | 0.871 | 0.935 | 0.960 | 0.965 | 17.807 | Deleterious |
| 519 | 6 | 3154168 | A | T | Pathogenic/Likely pathogenic | TUBB2A | . | . | . | . | . | . | . | . | . | . | 6 | 3154168 | 3154168 | A | T | exonic | TUBB2A | . | synonymous SNV | TUBB2A:NM_001069:exon4:c.A1033A:p.I345I,TUBB2A:NM_001310315:exon4:c.A778A:p.I260I | 6p25.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 520 | 6 | 7559281 | C | T | Pathogenic/Likely pathogenic | DSP | . | . | . | . | . | . | . | . | . | . | 6 | 7559281 | 7559281 | C | T | exonic | DSP | . | stopgain | DSP:NM_001008844:exon4:c.C478T:p.R160X,DSP:NM_004415:exon4:c.C478T:p.R160X | 6p24.3 | . | rs397516943 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 9.544 | 35 | 0.997 | 0.880 | D | . | . | . | . | 0.745 | 0 | 3.81 | 0.871 | 0.044 | 0.979 | 0.997 | 15.313 | Deleterious (FATHMM) |
| 521 | 6 | 7565521 | G | A | Pathogenic/Likely pathogenic | DSP | . | . | . | . | . | . | . | . | . | . | 6 | 7565521 | 7565521 | G | A | splicing | DSP | NM_004415:exon7:c.939+1G>A,NM_001008844:exon7:c.939+1G>A | . | . | 6p24.3 | . | rs727504443 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.931 | 27.6 | 0.995 | 0.995 | D | . | . | . | . | 0.156 | 0 | 5.55 | 0.917 | 1.048 | 0.881 | 0.573 | 19.518 | Deleterious (FATHMM) |
| 522 | 6 | 7576986 | C | T | Pathogenic/Likely pathogenic | DSP | . | . | . | . | . | . | . | . | . | . | 6 | 7576986 | 7576986 | C | T | exonic | DSP | . | stopgain | DSP:NM_001008844:exon20:c.C2821T:p.R941X,DSP:NM_004415:exon20:c.C2821T:p.R941X | 6p24.3 | . | rs730880082 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.997 | 44 | 0.998 | 0.914 | D | . | . | . | . | 0.707 | 0 | 5.77 | 0.871 | 0.935 | 0.999 | 1.000 | 14.794 | Deleterious (FATHMM) |
| 523 | 6 | 7579820 | T | A | Pathogenic/Likely pathogenic | DSP | . | . | . | . | . | . | . | . | . | . | 6 | 7579820 | 7579820 | T | A | exonic | DSP | . | stopgain | DSP:NM_004415:exon23:c.T3630A:p.Y1210X | 6p24.3 | . | rs727503001 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.132 | 37 | 0.996 | 0.929 | D | . | . | . | . | 0.707 | 0 | 4.2 | 0.991 | 1.061 | 1.000 | 1.000 | 11.016 | Deleterious (FATHMM) |
| 524 | 6 | 7580370 | C | T | Pathogenic/Likely pathogenic | DSP | . | . | . | . | . | . | . | . | . | . | 6 | 7580370 | 7580370 | C | T | exonic | DSP | . | stopgain | DSP:NM_004415:exon23:c.C4180T:p.Q1394X | 6p24.3 | 7.7e-05 | rs140474226 | . | . | . | . | . | . | 0.001 | N | 1 | A | . | . | . | . | . | . | . | 12.164 | 38 | 0.997 | 0.854 | D | . | . | . | . | 0.707 | 0 | 5.65 | 0.871 | 0.065 | 0.995 | 0.990 | 19.722 | Deleterious (FATHMM) |
| 525 | 6 | 7580721 | C | T | Pathogenic/Likely pathogenic | DSP | . | . | . | . | . | . | . | . | . | . | 6 | 7580721 | 7580721 | C | T | exonic | DSP | . | stopgain | DSP:NM_004415:exon23:c.C4531T:p.Q1511X | 6p24.3 | . | rs397516940 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.957 | 38 | 0.997 | 0.950 | D | . | . | . | . | 0.707 | 0 | 5.74 | 0.871 | 0.935 | 0.594 | 0.659 | 19.898 | Deleterious (FATHMM) |
| 526 | 6 | 32040110 | G | T | Pathogenic | CYP21A2 | . | . | . | . | . | . | . | . | . | . | 6 | 32040110 | 32040110 | G | T | exonic | CYP21A2 | . | nonsynonymous SNV | CYP21A2:NM_001128590:exon6:c.G754T:p.V252L,CYP21A2:NM_000500:exon7:c.G844T:p.V282L | 6p21.33 | . | rs6471 | 0.612 | T | 0.929 | P | 0.796 | P | 0.001 | D | 0.956 | A | 0.545 | N | -0.03 | T | -0.83 | N | 0.727 | 3.853 | 23.4 | 0.991 | 0.878 | D | -0.970 | T | 0.100 | T | 0.526 | 0 | 4.02 | 0.917 | 0.935 | 0.912 | 0.412 | 10.072 | Tolerated |
| 527 | 6 | 43007265 | G | A | Pathogenic | MEA1|PPP2R5D | . | . | . | . | . | . | . | . | . | . | 6 | 43007265 | 43007265 | G | A | exonic | PPP2R5D | . | nonsynonymous SNV | PPP2R5D:NM_180977:exon3:c.G274A:p.E92K,PPP2R5D:NM_001270476:exon5:c.G139A:p.E47K,PPP2R5D:NM_006245:exon5:c.G592A:p.E198K,PPP2R5D:NM_180976:exon5:c.G496A:p.E166K | 6p21.1 | . | rs863225082 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 3.64 | H | 0.53 | T | -3.8 | D | 0.898 | 7.066 | 33 | 0.999 | 0.999 | D | 0.403 | D | 0.608 | D | 0.707 | 0 | 5.84 | 0.917 | 0.953 | 0.992 | 0.998 | 20.155 | Deleterious |
| 528 | 6 | 43038323 | C | T | Pathogenic | CUL7 | . | . | . | . | . | . | . | . | . | . | 6 | 43038323 | 43038323 | C | T | exonic | CUL7 | . | synonymous SNV | CUL7:NM_001168370:exon25:c.C4969A:p.R1657R,CUL7:NM_014780:exon25:c.C4717A:p.R1573R | 6p21.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 529 | 6 | 43044883 | T | G | Pathogenic/Likely pathogenic | CUL7 | . | . | . | . | . | . | . | . | . | . | 6 | 43044883 | 43044883 | T | G | exonic | CUL7 | . | nonsynonymous SNV | CUL7:NM_001168370:exon16:c.T3293C:p.L1098P,CUL7:NM_014780:exon16:c.T3041C:p.L1014P | 6p21.1 | . | . | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1 | D | 2.085 | M | -2.22 | D | -4.57 | D | 0.993 | 5.100 | 25.3 | 0.998 | 0.996 | D | 0.601 | D | 0.719 | D | 0.707 | 0 | 5.18 | 1.062 | 1.194 | 0.883 | 0.219 | 15.034 | Deleterious |
| 530 | 6 | 49431781 | C | T | Pathogenic | MUT | . | . | . | . | . | . | . | . | . | . | 6 | 49431781 | 49431781 | C | T | exonic | MUT | . | nonsynonymous SNV | MUT:NM_000255:exon13:c.C2200A:p.Q734K | 6p12.3 | . | . | 0.735 | T | 0.0 | B | 0.002 | B | 0.000 | D | 1.000 | D | -0.155 | N | -3.48 | D | 0.32 | N | 0.289 | 0.622 | 8.305 | 0.568 | 0.906 | D | -0.556 | T | 0.410 | T | 0.706 | 0 | 2.83 | 0.917 | -0.415 | 0.997 | 0.923 | 15.961 | Tolerated |
| 531 | 6 | 49451591 | C | T | Pathogenic | MUT | . | . | . | . | . | . | . | . | . | . | 6 | 49451591 | 49451591 | C | T | exonic | MUT | . | synonymous SNV | MUT:NM_000255:exon6:c.C1207A:p.R403R | 6p12.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 532 | 6 | 49451690 | A | C | Pathogenic/Likely pathogenic | MUT | . | . | . | . | . | . | . | . | . | . | 6 | 49451690 | 49451690 | A | C | exonic | MUT | . | nonsynonymous SNV | MUT:NM_000255:exon6:c.A1108G:p.T370A | 6p12.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.065 | M | -5.24 | D | -4.95 | D | 0.78 | 5.198 | 25.5 | 0.998 | 0.984 | D | 1.094 | D | 0.971 | D | 0.706 | 0 | 5.05 | 0.991 | 0.913 | 0.981 | 0.997 | 13.977 | Deleterious |
| 533 | 6 | 51659682 | C | T | Pathogenic/Likely pathogenic | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 51659682 | 51659682 | C | T | exonic | PKHD1 | . | nonsynonymous SNV | PKHD1:NM_138694:exon61:c.C10444A:p.R3482S | 6p12.3 | . | . | 0.005 | D | 0.984 | D | 0.512 | P | 0.028 | N | 1.000 | N | 1.04 | L | -3.34 | D | -4.08 | D | 0.754 | 5.643 | 26.6 | 0.993 | 0.505 | D | -0.140 | T | 0.573 | D | 0.487 | 0 | 3.89 | 0.917 | 1.048 | 0.248 | 0.971 | 13.341 | Deleterious |
| 534 | 6 | 51748297 | C | T | Pathogenic/Likely pathogenic | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 51748297 | 51748297 | C | T | exonic | PKHD1 | . | synonymous SNV | PKHD1:NM_138694:exon58:c.C9319A:p.R3107R,PKHD1:NM_170724:exon58:c.C9319A:p.R3107R | 6p12.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 535 | 6 | 51753327 | C | T | Pathogenic/Likely pathogenic | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 51753327 | 51753327 | C | T | exonic | PKHD1 | . | synonymous SNV | PKHD1:NM_138694:exon57:c.C8824A:p.R2942R,PKHD1:NM_170724:exon57:c.C8824A:p.R2942R | 6p12.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 536 | 6 | 51903601 | T | A | Pathogenic/Likely pathogenic | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 51903601 | 51903601 | T | A | exonic | PKHD1 | . | synonymous SNV | PKHD1:NM_138694:exon43:c.T6992T:p.I2331I,PKHD1:NM_170724:exon43:c.T6992T:p.I2331I | 6p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 537 | 6 | 52024940 | C | T | Pathogenic | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 52024940 | 52024940 | C | T | exonic | PKHD1 | . | synonymous SNV | PKHD1:NM_138694:exon32:c.C4870A:p.R1624R,PKHD1:NM_170724:exon32:c.C4870A:p.R1624R | 6p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 538 | 6 | 52058355 | C | T | Pathogenic/Likely pathogenic | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 52058355 | 52058355 | C | T | exonic | PKHD1 | . | synonymous SNV | PKHD1:NM_138694:exon16:c.C1480A:p.R494R,PKHD1:NM_170724:exon16:c.C1480A:p.R494R | 6p12.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 539 | 6 | 52083201 | C | T | Pathogenic, protective | PKHD1 | . | . | . | . | . | . | . | . | . | . | 6 | 52083201 | 52083201 | C | T | exonic | PKHD1 | . | nonsynonymous SNV | PKHD1:NM_138694:exon3:c.C107A:p.T36K,PKHD1:NM_170724:exon3:c.C107A:p.T36K | 6p12.2 | . | . | 0.006 | D | 1.0 | D | 0.999 | D | 0.000 | D | 0.762 | D | 1.955 | M | -2.73 | D | -4.01 | D | 0.906 | 6.700 | 32 | 0.993 | 0.970 | D | 0.855 | D | 0.826 | D | 0.487 | 0 | 5.51 | 0.917 | 1.048 | 0.999 | 0.997 | 16.569 | Deleterious |
| 540 | 6 | 79493636 | C | T | Pathogenic | LCA5 | . | . | . | . | . | . | . | . | . | . | 6 | 79493636 | 79493636 | C | T | exonic | LCA5 | . | nonsynonymous SNV | LCA5:NM_001122769:exon4:c.C835A:p.Q279K,LCA5:NM_181714:exon5:c.C835A:p.Q279K | 6q14.1 | . | . | 0.326 | T | 0.993 | D | 0.84 | P | 0.001 | D | 0.862 | D | 1.115 | L | -1.0 | T | -0.24 | N | 0.467 | 4.619 | 24.5 | 0.991 | 0.943 | D | -0.288 | T | 0.367 | T | 0.638 | 0 | 5.56 | 0.917 | 0.098 | 0.404 | 0.171 | 18.452 | Tolerated |
| 541 | 6 | 80168945 | G | C | Pathogenic/Likely pathogenic | BCKDHB | . | . | . | . | . | . | . | . | . | . | 6 | 80168945 | 80168945 | G | C | exonic | BCKDHB | . | nonsynonymous SNV | BCKDHB:NM_000056:exon5:c.G548C:p.R183P,BCKDHB:NM_183050:exon5:c.G548C:p.R183P | 6q14.1 | 0.0003 | rs79761867 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.545 | H | -3.14 | D | -6.81 | D | 0.987 | 7.238 | 34 | 0.997 | 0.989 | D | 1.109 | D | 0.936 | D | 0.706 | 0 | 5.1 | 0.917 | 0.989 | 0.983 | 0.996 | 17.552 | Deleterious |
| 542 | 6 | 80200990 | C | T | Pathogenic/Likely pathogenic | BCKDHB | . | . | . | . | . | . | . | . | . | . | 6 | 80200990 | 80200990 | C | T | exonic | BCKDHB | . | stopgain | BCKDHB:NM_000056:exon7:c.C799T:p.Q267X,BCKDHB:NM_183050:exon7:c.C799T:p.Q267X | 6q14.1 | . | rs398124594 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.277 | 45 | 0.998 | 0.970 | D | . | . | . | . | 0.706 | 0 | 6.17 | 0.871 | 0.935 | 0.948 | 0.966 | 18.373 | Deleterious (FATHMM) |
| 543 | 6 | 80203114 | C | T | Pathogenic/Likely pathogenic | BCKDHB | . | . | . | . | . | . | . | . | . | . | 6 | 80203114 | 80203114 | C | T | exonic | BCKDHB | . | stopgain | BCKDHB:NM_000056:exon8:c.C853T:p.R285X,BCKDHB:NM_183050:exon8:c.C853T:p.R285X | 6q14.1 | . | rs398124598 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.674 | 36 | 0.993 | 0.720 | D | . | . | . | . | 0.707 | 0 | 1.59 | -0.058 | 0.935 | 0.972 | 0.601 | 8.157 | Deleterious (FATHMM) |
| 544 | 6 | 80273153 | C | T | Pathogenic/Likely pathogenic | BCKDHB | . | . | . | . | . | . | . | . | . | . | 6 | 80273153 | 80273153 | C | T | exonic | BCKDHB | . | stopgain | BCKDHB:NM_000056:exon9:c.C970T:p.R324X,BCKDHB:NM_183050:exon9:c.C970T:p.R324X | 6q14.1 | . | rs398124603 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.933 | 44 | 0.997 | 0.929 | D | . | . | . | . | 0.693 | 0 | 3.89 | 0.871 | 0.935 | 0.999 | 0.787 | 11.355 | Deleterious (FATHMM) |
| 545 | 6 | 80273205 | T | A | Pathogenic/Likely pathogenic | BCKDHB | . | . | . | . | . | . | . | . | . | . | 6 | 80273205 | 80273205 | T | A | exonic | BCKDHB | . | nonsynonymous SNV | BCKDHB:NM_000056:exon9:c.T1022A:p.I341N,BCKDHB:NM_183050:exon9:c.T1022A:p.I341N | 6q14.1 | . | rs796051939 | 0.0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1 | D | 4.375 | H | -3.71 | D | -6.03 | D | 0.835 | 6.776 | 32 | 0.991 | 0.986 | D | 1.094 | D | 0.954 | D | 0.693 | 0 | 5.72 | 0.991 | 1.061 | 1.000 | 0.999 | 12.409 | Deleterious |
| 546 | 6 | 98926925 | C | T | Pathogenic | FBXL4 | . | . | . | . | . | . | . | . | . | . | 6 | 98926925 | 98926925 | C | T | exonic | FBXL4 | . | synonymous SNV | FBXL4:NM_012160:exon3:c.C64A:p.R22R,FBXL4:NM_001278716:exon4:c.C64A:p.R22R | 6q16.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 547 | 6 | 118558946 | C | T | Pathogenic | PLN|CEP85L | . | . | . | . | . | . | . | . | . | . | 6 | 118558946 | 118558946 | C | T | exonic | PLN | . | nonsynonymous SNV | PLN:NM_002667:exon2:c.C25T:p.R9C | 6q22.31 | . | rs111033559 | 0.0 | D | 0.999 | D | 0.939 | D | 0.000 | D | 1 | A | . | . | -2.96 | D | -7.33 | D | 0.969 | 5.713 | 26.8 | 0.998 | 0.907 | D | 0.877 | D | 0.840 | D | 0.560 | 0 | 4.84 | 0.871 | 0.852 | 0.999 | 0.998 | 16.699 | Deleterious |
| 548 | 6 | 118559037 | T | G | Pathogenic/Likely pathogenic | PLN|CEP85L | . | . | . | . | . | . | . | . | . | . | 6 | 118559037 | 118559037 | T | G | exonic | PLN | . | stopgain | PLN:NM_002667:exon2:c.T116G:p.L39X | 6q22.31 | . | rs111033560 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 10.815 | 36 | 0.974 | 0.932 | D | . | . | . | . | 0.616 | 0 | 5.57 | 0.991 | 0.964 | 0.998 | 0.854 | 15.740 | Deleterious (FATHMM) |
| 549 | 6 | 135433081 | C | T | Pathogenic | AHI1 | . | . | . | . | . | . | . | . | . | . | 6 | 135433081 | 135433081 | C | T | exonic | AHI1 | . | synonymous SNV | AHI1:NM_001134830:exon14:c.C2212A:p.R738R,AHI1:NM_001134832:exon15:c.C2212A:p.R738R,AHI1:NM_017651:exon15:c.C2212A:p.R738R,AHI1:NM_001134831:exon16:c.C2212A:p.R738R | 6q23.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 550 | 6 | 135455811 | C | T | Pathogenic | AHI1 | . | . | . | . | . | . | . | . | . | . | 6 | 135455811 | 135455811 | C | T | exonic | AHI1 | . | nonsynonymous SNV | AHI1:NM_001134830:exon8:c.C1267A:p.Q423K,AHI1:NM_001134832:exon9:c.C1267A:p.Q423K,AHI1:NM_017651:exon9:c.C1267A:p.Q423K,AHI1:NM_001134831:exon10:c.C1267A:p.Q423K | 6q23.3 | . | . | 0.099 | T | 0.998 | D | 0.995 | D | 0.000 | D | 1.000 | D | 1.95 | M | 0.26 | T | -2.2 | N | 0.814 | 5.801 | 27.1 | 0.996 | 0.992 | D | -0.469 | T | 0.326 | T | 0.615 | 0 | 5.7 | 0.917 | 0.994 | 0.996 | 1.000 | 19.829 | Tolerated |
| 551 | 6 | 136822785 | C | G | Pathogenic/Likely pathogenic | PEX7 | . | . | . | . | . | . | . | . | . | . | 6 | 136822785 | 136822785 | C | G | exonic | PEX7 | . | stopgain | PEX7:NM_000288:exon1:c.C120G:p.Y40X | 6q23.3 | . | rs61753238 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.354 | 39 | 0.995 | 0.906 | D | . | . | . | . | 0.442 | 0 | 5.29 | 0.853 | 0.907 | 0.998 | 1.000 | 17.48 | Deleterious (FATHMM) |
| 552 | 6 | 136898213 | T | A | Pathogenic | PEX7 | . | . | . | . | . | . | . | . | . | . | 6 | 136898213 | 136898213 | T | A | exonic | PEX7 | . | stopgain | PEX7:NM_000288:exon9:c.T875A:p.L292X | 6q23.3 | 0.0005 | rs1805137 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.954 | 40 | 0.992 | 0.953 | D | . | . | . | . | 0.706 | 0 | 5.82 | 0.991 | 1.061 | 0.995 | 0.996 | 15.166 | Deleterious (FATHMM) |
| 553 | 6 | 136898242 | G | C | Pathogenic | PEX7 | . | . | . | . | . | . | . | . | . | . | 6 | 136898242 | 136898242 | G | C | splicing | PEX7 | NM_000288:exon9:c.903+1G>C | . | . | 6q23.3 | 7.7e-05 | rs148591292 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 4.335 | 24.0 | 0.995 | 0.974 | D | . | . | . | . | 0.263 | 0 | 5.82 | 0.917 | 1.048 | 0.990 | 0.985 | 18.870 | Deleterious (FATHMM) |
| 554 | 6 | 157148764 | C | T | Pathogenic | ARID1B | . | . | . | . | . | . | . | . | . | . | 6 | 157148764 | 157148764 | C | T | exonic | ARID1B | . | stopgain | ARID1B:NM_017519:exon8:c.C2653T:p.R885X,ARID1B:NM_020732:exon9:c.C2692T:p.R898X | 6q25.3 | . | rs794727977 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.399 | 42 | 0.998 | 0.862 | D | . | . | . | . | 0.731 | 0 | 6.17 | 0.871 | 0.935 | 1.000 | 1.000 | 15.581 | Deleterious (FATHMM) |
| 555 | 7 | 5977587 | G | T | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5977587 | 5977587 | G | T | splicing | PMS2 | NM_000535:exon14:c.2445+1C>A | . | . | 7p22.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.219 | 23.9 | 0.990 | 0.979 | D | . | . | . | . | 0.263 | 0 | 5.75 | 0.871 | 0.925 | 0.953 | 0.851 | 18.929 | Deleterious (FATHMM) |
| 556 | 7 | 5987078 | C | T | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5987078 | 5987078 | C | T | exonic | PMS2 | . | synonymous SNV | PMS2:NM_000535:exon11:c.C1687A:p.R563R | 7p22.1 | . | rs587778618 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 557 | 7 | 5989799 | G | A | Pathogenic/Likely pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5989799 | 5989799 | G | A | splicing | PMS2 | NM_000535:exon10:c.1144+1C>T | . | . | 7p22.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.783 | 24.7 | 0.993 | 0.940 | D | . | . | . | . | 0.156 | 0 | 4.85 | 0.868 | 0.847 | 0.933 | 0.992 | 14.708 | Deleterious (FATHMM) |
| 558 | 7 | 5992059 | A | G | Pathogenic/Likely pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5992059 | 5992059 | A | G | splicing | PMS2 | NM_000535:exon9:c.904-2T>C | . | . | 7p22.1 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 2.401 | 18.83 | 0.878 | 0.992 | D | . | . | . | . | 0.099 | 0 | 4.22 | 0.991 | 1.007 | 0.101 | 0.714 | 11.594 | Deleterious (FATHMM) |
| 559 | 7 | 5995586 | C | G | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5995586 | 5995586 | C | G | exonic | PMS2 | . | synonymous SNV | PMS2:NM_000535:exon8:c.C851C:p.S284S | 7p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 560 | 7 | 5995614 | C | T | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5995614 | 5995614 | C | T | exonic | PMS2 | . | nonsynonymous SNV | PMS2:NM_000535:exon8:c.C823A:p.Q275K | 7p22.1 | . | . | 0.973 | T | 0.064 | B | 0.008 | B | 0.320 | N | 1 | N | -1.395 | N | -1.66 | D | 0.38 | N | 0.214 | -0.338 | 0.543 | 0.815 | 0.159 | N | -0.874 | T | 0.131 | T | 0.719 | 0 | 0.6 | 0.897 | 0.947 | 0.037 | 0.833 | 4.790 | Tolerated |
| 561 | 7 | 5997364 | C | A | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 5997364 | 5997364 | C | A | exonic | PMS2 | . | synonymous SNV | PMS2:NM_000535:exon7:c.C765T:p.Y255Y | 7p22.1 | . | rs573125799 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 562 | 7 | 6003794 | A | T | Pathogenic/Likely pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 6003794 | 6003794 | A | T | splicing | PMS2 | NM_000535:exon4:c.251-2T>A | . | . | 7p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . |
| 563 | 7 | 6009018 | T | A | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 6009018 | 6009018 | T | A | exonic | PMS2 | . | synonymous SNV | PMS2:NM_000535:exon1:c.T2T:p.M1M | 7p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 564 | 7 | 6009019 | A | T | Pathogenic | PMS2 | . | . | . | . | . | . | . | . | . | . | 7 | 6009019 | 6009019 | A | T | exonic | PMS2 | . | synonymous SNV | PMS2:NM_000535:exon1:c.A1A:p.M1M | 7p22.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 565 | 7 | 44149763 | G | A | Pathogenic | GCK | . | . | . | . | . | . | . | . | . | . | 7 | 44149763 | 44149763 | G | A | exonic | GCK | . | nonsynonymous SNV | GCK:NM_000162:exon6:c.G676T:p.V226L,GCK:NM_033507:exon6:c.G679T:p.V227L,GCK:NM_033508:exon7:c.G673T:p.V225L | 7p13 | . | . | 0.072 | T | 0.997 | D | 0.991 | D | 0.000 | D | 1 | D | 1.2 | L | -4.53 | D | -2.19 | N | 0.931 | 6.417 | 29.7 | 0.998 | 0.955 | D | 1.002 | D | 0.934 | D | 0.578 | 0 | 6.17 | 0.791 | 0.935 | 0.987 | 0.995 | 20.490 | Deleterious |
| 566 | 7 | 44150004 | G | A | Pathogenic | GCK | . | . | . | . | . | . | . | . | . | . | 7 | 44150004 | 44150004 | G | A | exonic | GCK | . | nonsynonymous SNV | GCK:NM_000162:exon5:c.G544T:p.V182L,GCK:NM_033507:exon5:c.G547T:p.V183L,GCK:NM_033508:exon6:c.G541T:p.V181L | 7p13 | . | . | 0.001 | D | 0.991 | D | 0.983 | D | 0.000 | D | 1 | D | 2.87 | M | -5.14 | D | -2.74 | D | 0.954 | 7.371 | 34 | 0.998 | 0.958 | D | 1.095 | D | 0.974 | D | 0.554 | 0 | 5.83 | 0.791 | 0.935 | 0.975 | 0.985 | 19.748 | Deleterious |
| 567 | 7 | 44152420 | G | A | Pathogenic | GCK | . | . | . | . | . | . | . | . | . | . | 7 | 44152420 | 44152420 | G | A | exonic | GCK | . | nonsynonymous SNV | GCK:NM_000162:exon3:c.G214T:p.G72W,GCK:NM_033507:exon3:c.G217T:p.G73W,GCK:NM_033508:exon4:c.G211T:p.G71W | 7p13 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.84 | H | -6.53 | D | -7.73 | D | 0.99 | 7.725 | 35 | 0.995 | 0.959 | D | 0.947 | D | 0.992 | D | 0.554 | 0 | 4.67 | 0.791 | 0.837 | 0.967 | 0.980 | 17.556 | Deleterious |
| 568 | 7 | 44153433 | C | T | Pathogenic/Likely pathogenic | GCK | . | . | . | . | . | . | . | . | . | . | 7 | 44153433 | 44153433 | C | T | exonic | GCK | . | nonsynonymous SNV | GCK:NM_000162:exon2:c.C76A:p.Q26K,GCK:NM_033507:exon2:c.C79A:p.Q27K,GCK:NM_033508:exon3:c.C73A:p.Q25K | 7p13 | . | . | 0.068 | T | 0.0 | B | 0.001 | B | 0.025 | N | 0.966 | D | 0.09 | N | -5.23 | D | -0.17 | N | 0.474 | 2.144 | 17.14 | 0.975 | 0.786 | D | 0.777 | D | 0.843 | D | 0.554 | 0 | 5.26 | 0.830 | 1.048 | 0.999 | 0.999 | 14.823 | Deleterious |
| 569 | 7 | 66081825 | G | A | Pathogenic/Likely pathogenic | ASL | . | . | . | . | . | . | . | . | . | . | 7 | 66081825 | 66081825 | G | A | exonic | ASL | . | nonsynonymous SNV | ASL:NM_001024943:exon2:c.G35A:p.R12Q,ASL:NM_001024944:exon2:c.G35A:p.R12Q,ASL:NM_001024946:exon2:c.G35A:p.R12Q,ASL:NM_000048:exon3:c.G35A:p.R12Q | 7q11.21 | 0.0022 | rs145138923 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 4.225 | H | -5.81 | D | -3.51 | D | 0.919 | 7.265 | 34 | 1.000 | 0.996 | D | 0.987 | D | 0.988 | D | 0.706 | 0 | 4.9 | 0.866 | 1.048 | 1.000 | 0.999 | 17.249 | Deleterious |
| 570 | 7 | 66083175 | G | A | Pathogenic | ASL | . | . | . | . | . | . | . | . | . | . | 7 | 66083175 | 66083175 | G | A | splicing | ASL | NM_000048:exon6:c.446+1G>A,NM_001024943:exon5:c.446+1G>A,NM_001024944:exon5:c.446+1G>A,NM_001024946:exon5:c.446+1G>A | . | . | 7q11.21 | 7.7e-05 | rs142637046 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.825 | 24.8 | 0.994 | 0.982 | D | . | . | . | . | 0.295 | 0 | 4.68 | 0.866 | 0.126 | 0.988 | 0.770 | 16.766 | Deleterious (FATHMM) |
| 571 | 7 | 66086751 | G | A | Pathogenic | ASL | . | . | . | . | . | . | . | . | . | . | 7 | 66086751 | 66086751 | G | A | exonic | ASL | . | nonsynonymous SNV | ASL:NM_001024943:exon7:c.G532A:p.V178M,ASL:NM_001024944:exon7:c.G532A:p.V178M,ASL:NM_000048:exon8:c.G532A:p.V178M | 7q11.21 | 0.0005 | rs28941473 | 0.22 | T | 0.974 | D | 0.502 | P | 0.000 | D | 1 | A | 1.11 | L | -5.85 | D | -0.36 | N | 0.834 | 1.896 | 15.56 | 0.986 | 0.940 | D | 1.111 | D | 0.939 | D | 0.707 | 0 | 4.78 | 0.866 | 1.048 | 0.969 | 0.085 | 13.899 | Deleterious |
| 572 | 7 | 66086763 | C | T | Pathogenic | ASL | . | . | . | . | . | . | . | . | . | . | 7 | 66086763 | 66086763 | C | T | exonic | ASL | . | stopgain | ASL:NM_001024943:exon7:c.C544T:p.R182X,ASL:NM_001024944:exon7:c.C544T:p.R182X,ASL:NM_000048:exon8:c.C544T:p.R182X | 7q11.21 | . | rs398123126 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.770 | 40 | 0.996 | 0.855 | D | . | . | . | . | 0.707 | 0 | 3.72 | -0.108 | 0.036 | 0.969 | 0.876 | 13.304 | Deleterious (FATHMM) |
| 573 | 7 | 66089114 | A | G | Pathogenic | ASL | . | . | . | . | . | . | . | . | . | . | 7 | 66089114 | 66089114 | A | G | exonic | ASL | . | nonsynonymous SNV | ASL:NM_001024946:exon10:c.A779G:p.Q260R,ASL:NM_001024943:exon11:c.A857G:p.Q286R,ASL:NM_001024944:exon11:c.A857G:p.Q286R,ASL:NM_000048:exon12:c.A857G:p.Q286R | 7q11.21 | . | rs28941472 | 0.004 | D | 0.874 | P | 0.772 | P | 0.000 | D | 1 | A | 4.305 | H | -5.68 | D | -3.85 | D | 0.941 | 5.707 | 26.8 | 0.998 | 0.989 | D | 1.016 | D | 0.985 | D | 0.732 | 0 | 4.87 | 1.003 | 1.179 | 1.000 | 1.000 | 13.834 | Deleterious |
| 574 | 7 | 66089693 | C | T | Pathogenic | ASL | . | . | . | . | . | . | . | . | . | . | 7 | 66089693 | 66089693 | C | T | exonic | ASL | . | stopgain | ASL:NM_001024944:exon12:c.C1000T:p.Q334X,ASL:NM_001024946:exon12:c.C982T:p.Q328X,ASL:NM_001024943:exon13:c.C1060T:p.Q354X,ASL:NM_000048:exon14:c.C1060T:p.Q354X | 7q11.21 | . | rs367543005 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.936 | 38 | 0.996 | 0.777 | D | . | . | . | . | 0.732 | 0 | 3.03 | -0.105 | 0.034 | 0.946 | 0.997 | 14.989 | Deleterious (FATHMM) |
| 575 | 7 | 74051747 | C | G | Pathogenic | ELN | . | . | . | . | . | . | . | . | . | . | 7 | 74051747 | 74051747 | C | G | intronic | ELN | . | . | . | 7q11.23 | . | rs397516433 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 576 | 7 | 74051748 | A | G | Pathogenic | ELN | . | . | . | . | . | . | . | . | . | . | 7 | 74051748 | 74051748 | A | G | splicing | ELN | NM_001081754:exon16:c.815-2A>G,NM_000501:exon16:c.800-2A>G,NM_001081753:exon16:c.815-2A>G,NM_001278939:exon16:c.800-2A>G,NM_001278918:exon13:c.668-2A>G,NM_001278917:exon15:c.770-2A>G,NM_001081755:exon16:c.800-2A>G,NM_001081752:exon15:c.770-2A>G,NM_001278916:exon15:c.758-2A>G,NM_001278915:exon16:c.800-2A>G,NM_001278914:exon15:c.785-2A>G,NM_001278913:exon13:c.692-2A>G,NM_001278912:exon16:c.800-2A>G | . | . | 7q11.23 | . | rs727503027 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.129 | 23.8 | 0.991 | 0.537 | D | . | . | . | . | 0.114 | 0 | 4.81 | 1.062 | 1.183 | 0.885 | 0.898 | 11.103 | Deleterious (FATHMM) |
| 577 | 7 | 74054770 | G | A | Pathogenic | ELN | . | . | . | . | . | . | . | . | . | . | 7 | 74054770 | 74054770 | G | A | splicing | ELN | NM_001081754:exon19:c.1165+1G>A,NM_000501:exon19:c.1150+1G>A,NM_001081753:exon19:c.1165+1G>A,NM_001278939:exon19:c.1150+1G>A,NM_001278918:exon16:c.1018+1G>A,NM_001278917:exon18:c.1120+1G>A,NM_001081755:exon19:c.1150+1G>A,NM_001081752:exon18:c.1120+1G>A,NM_001278916:exon18:c.1108+1G>A,NM_001278915:exon19:c.1150+1G>A,NM_001278914:exon18:c.1135+1G>A,NM_001278913:exon16:c.1042+1G>A,NM_001278912:exon19:c.1150+1G>A | . | . | 7q11.23 | . | rs727503030 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.964 | 23.6 | 0.993 | 0.867 | D | . | . | . | . | 0.066 | 0 | 4.04 | 0.917 | 0.997 | 0.919 | 0.946 | 11.955 | Deleterious (FATHMM) |
| 578 | 7 | 74056680 | C | T | Pathogenic | ELN | . | . | . | . | . | . | . | . | . | . | 7 | 74056680 | 74056680 | C | T | exonic | ELN | . | stopgain | ELN:NM_001278913:exon18:c.C1138T:p.Q380X,ELN:NM_001278918:exon18:c.C1114T:p.Q372X,ELN:NM_001081752:exon20:c.C1294T:p.Q432X,ELN:NM_001278914:exon20:c.C1309T:p.Q437X,ELN:NM_001278916:exon20:c.C1282T:p.Q428X,ELN:NM_001278917:exon20:c.C1294T:p.Q432X,ELN:NM_000501:exon21:c.C1324T:p.Q442X,ELN:NM_001081753:exon21:c.C1339T:p.Q447X,ELN:NM_001081754:exon21:c.C1339T:p.Q447X,ELN:NM_001081755:exon21:c.C1324T:p.Q442X,ELN:NM_001278912:exon21:c.C1324T:p.Q442X,ELN:NM_001278915:exon21:c.C1324T:p.Q442X,ELN:NM_001278939:exon21:c.C1324T:p.Q442X | 7q11.23 | . | rs137854452 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 8.703 | 35 | 0.989 | 0.244 | N | . | . | . | . | 0.646 | 0 | 1.97 | -0.064 | 0.843 | 0.003 | 0.315 | 9.723 | Deleterious (DANN) |
| 579 | 7 | 76303844 | G | T | Pathogenic/Likely pathogenic | HSPB1 | . | . | . | . | . | . | . | . | . | . | 7 | 76303844 | 76303844 | G | T | exonic | HSPB1 | . | nonsynonymous SNV | HSPB1:NM_001540:exon2:c.G407T:p.R136L | 7q11.23 | . | rs863225022 | 0.0 | D | 0.898 | P | 0.869 | P | 0.000 | D | 1 | D | 3.905 | H | -2.94 | D | -6.36 | D | 0.956 | 6.212 | 28.7 | 0.998 | 0.967 | D | 1.066 | D | 0.907 | D | 0.442 | 0 | 4.42 | 0.917 | 1.036 | 0.991 | 0.994 | 16.221 | Deleterious |
| 580 | 7 | 76304078 | C | T | Pathogenic/Likely pathogenic | HSPB1 | . | . | . | . | . | . | . | . | . | . | 7 | 76304078 | 76304078 | C | T | exonic | HSPB1 | . | stopgain | HSPB1:NM_001540:exon3:c.C523T:p.Q175X | 7q11.23 | . | rs863225023 | . | . | . | . | . | . | 0.000 | D | 1 | D | . | . | . | . | . | . | . | 11.379 | 37 | 0.995 | 0.806 | D | . | . | . | . | 0.733 | 0 | 4.65 | 0.871 | 0.056 | 0.128 | 0.018 | 16.694 | Deleterious (FATHMM) |
| 581 | 7 | 92222870 | C | T | Pathogenic | KRIT1 | . | . | . | . | . | . | . | . | . | . | 7 | 92222870 | 92222870 | C | T | exonic | KRIT1 | . | nonsynonymous SNV | KRIT1:NM_001013406:exon11:c.C1219A:p.Q407K,KRIT1:NM_004912:exon13:c.C1363A:p.Q455K,KRIT1:NM_194454:exon13:c.C1363A:p.Q455K,KRIT1:NM_194455:exon13:c.C1363A:p.Q455K,KRIT1:NM_194456:exon14:c.C1363A:p.Q455K | 7q21.2 | . | . | 0.384 | T | 0.002 | B | 0.003 | B | 0.000 | D | 1.000 | D | 0.41 | N | 1.01 | T | -0.46 | N | 0.411 | 2.038 | 16.45 | 0.936 | 0.981 | D | -0.894 | T | 0.157 | T | 0.732 | 0 | 5.26 | 0.917 | 0.902 | 0.998 | 1.000 | 18.865 | Tolerated |
| 582 | 7 | 92494486 | G | A | Pathogenic/Likely pathogenic | PEX1|GATAD1 | . | . | . | . | . | . | . | . | . | . | 7 | 92494486 | 92494486 | G | A | splicing | PEX1 | NM_000466:exon18:c.2926+1C>T,NM_001282677:exon17:c.2755+1C>T,NM_001282678:exon18:c.2302+1C>T | . | . | 7q21.2 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.029 | 28.0 | 0.995 | 0.998 | D | . | . | . | . | 0.295 | 0 | 5.64 | 0.871 | 0.931 | 0.997 | 1.000 | 19.702 | Deleterious (FATHMM) |
| 583 | 7 | 92501562 | G | A | Pathogenic | PEX1 | . | . | . | . | . | . | . | . | . | . | 7 | 92501562 | 92501562 | G | A | exonic | PEX1 | . | nonsynonymous SNV | PEX1:NM_001282677:exon14:c.G2357T:p.G786V,PEX1:NM_000466:exon15:c.G2528T:p.G843V,PEX1:NM_001282678:exon15:c.G1904T:p.G635V | 7q21.2 | . | . | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 2.86 | M | -3.33 | D | -8.61 | D | 0.984 | 7.140 | 34 | 0.998 | 0.989 | D | 1.005 | D | 0.912 | D | 0.707 | 0 | 5.78 | 0.871 | 0.931 | 1.000 | 0.996 | 20.012 | Deleterious |
| 584 | 7 | 92501923 | C | T | Pathogenic/Likely pathogenic | PEX1 | . | . | . | . | . | . | . | . | . | . | 7 | 92501923 | 92501923 | C | T | exonic | PEX1 | . | synonymous SNV | PEX1:NM_001282677:exon13:c.C2212A:p.R738R,PEX1:NM_000466:exon14:c.C2383A:p.R795R,PEX1:NM_001282678:exon14:c.C1759A:p.R587R | 7q21.2 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 585 | 7 | 107661709 | C | A | Pathogenic/Likely pathogenic | SLC26A4|SLC26A4-AS1 | . | . | . | . | . | . | . | . | . | . | 7 | 107661709 | 107661709 | C | A | exonic | SLC26A4 | . | stopgain | SLC26A4:NM_000441:exon2:c.C68A:p.S23X | 7q22.3 | . | rs397516430 | . | . | . | . | . | . | 0.016 | N | 1 | A | . | . | . | . | . | . | . | 9.138 | 35 | 0.990 | 0.715 | D | . | . | . | . | 0.443 | 1 | 4.21 | 0.871 | 0.826 | 0.868 | 0.993 | 11.128 | Deleterious (FATHMM) |
| 586 | 7 | 107661726 | G | C | Pathogenic/Likely pathogenic | SLC26A4|SLC26A4-AS1 | . | . | . | . | . | . | . | . | . | . | 7 | 107661726 | 107661726 | G | C | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon2:c.G85C:p.E29Q | 7q22.3 | . | rs111033205 | 0.224 | T | 0.662 | P | 0.298 | B | 0.000 | D | 0.928 | D | 1.895 | L | -2.75 | D | -1.34 | N | 0.802 | 3.477 | 23.1 | 0.983 | 0.739 | D | 0.395 | D | 0.730 | D | 0.443 | 1 | 4.21 | 0.917 | 0.923 | 0.996 | 1.000 | 15.840 | Deleterious |
| 587 | 7 | 107661807 | T | C | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107661807 | 107661807 | T | C | splicing | SLC26A4 | NM_000441:exon2:c.164+2T>C | . | . | 7q22.3 | . | rs397516420 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.996 | 25.1 | 0.991 | 0.894 | D | . | . | . | . | 0.167 | 0 | 4.21 | 0.991 | 0.935 | 0.997 | 0.974 | 12.682 | Deleterious (FATHMM) |
| 588 | 7 | 107672245 | G | T | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107672245 | 107672245 | G | T | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon4:c.G412T:p.V138F | 7q22.3 | 7.7e-05 | rs111033199 | 0.001 | D | 0.996 | D | 0.983 | D | 0.000 | D | 1.000 | A | 2.72 | M | -3.11 | D | -3.77 | D | 0.969 | 3.357 | 22.9 | 0.996 | 0.974 | D | 0.957 | D | 0.884 | D | 0.487 | 0 | 5.12 | 0.917 | 1.048 | 1.000 | 1.000 | 18.931 | Deleterious |
| 589 | 7 | 107674302 | G | C | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107674302 | 107674302 | G | C | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon5:c.G554C:p.R185T | 7q22.3 | . | rs542620119 | 0.001 | D | 0.999 | D | 0.98 | D | 0.000 | D | 1.000 | D | 2.96 | M | -3.33 | D | -5.52 | D | 0.962 | 4.706 | 24.6 | 0.982 | 0.994 | D | 1.016 | D | 0.908 | D | 0.554 | 0 | 5.07 | 0.917 | 0.953 | 0.546 | 0.081 | 18.447 | Deleterious |
| 590 | 7 | 107674970 | G | T | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107674970 | 107674970 | G | T | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon6:c.G626T:p.G209V | 7q22.3 | 0.0005 | rs111033303 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 3.31 | M | -4.24 | D | -8.9 | D | 0.997 | 6.446 | 29.8 | 0.998 | 0.994 | D | 1.096 | D | 0.962 | D | 0.554 | 0 | 5.61 | 0.917 | 0.953 | 1.000 | 1.000 | 19.625 | Deleterious |
| 591 | 7 | 107675051 | T | C | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107675051 | 107675051 | T | C | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon6:c.T707C:p.L236P | 7q22.3 | 0.0007 | rs80338848 | 0.0 | D | 0.998 | D | 0.98 | D | 0.024 | N | 1 | A | 2.655 | M | -3.71 | D | -6.19 | D | 0.956 | 6.239 | 28.8 | 0.999 | 0.983 | D | 1.060 | D | 0.923 | D | 0.554 | 0 | 5.41 | 0.991 | 1.061 | 0.996 | 0.998 | 15.433 | Deleterious |
| 592 | 7 | 107675060 | T | A | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107675060 | 107675060 | T | A | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon6:c.T716A:p.V239D | 7q22.3 | . | rs111033256 | 0.001 | D | 0.845 | P | 0.892 | P | 0.000 | D | 1.000 | D | 2.11 | M | -3.22 | D | -5.67 | D | 0.956 | 6.380 | 29.5 | 0.986 | 0.980 | D | 0.924 | D | 0.867 | D | 0.554 | 0 | 5.59 | 0.991 | 1.061 | 0.991 | 0.986 | 15.761 | Deleterious |
| 593 | 7 | 107683453 | A | G | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107683453 | 107683453 | A | G | splicing | SLC26A4 | NM_000441:exon8:c.919-2A>G | . | . | 7q22.3 | . | rs111033313 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.824 | 24.8 | 0.996 | 0.994 | D | . | . | . | . | 0.061 | 0 | 5.62 | 1.062 | 1.199 | 0.998 | 1.000 | 16.117 | Deleterious (FATHMM) |
| 594 | 7 | 107683538 | G | A | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107683538 | 107683538 | G | A | splicing | SLC26A4 | NM_000441:exon8:c.1001+1G>A | . | . | 7q22.3 | 0.0005 | rs80338849 | . | . | . | . | . | . | . | . | 1 | A | . | . | . | . | . | . | . | 5.460 | 26.1 | 0.996 | 0.997 | D | . | . | . | . | 0.061 | 0 | 5.62 | 0.917 | 1.048 | 0.998 | 0.953 | 20.024 | Deleterious (FATHMM) |
| 595 | 7 | 107690200 | G | A | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107690200 | 107690200 | G | A | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon10:c.G1226A:p.R409H | 7q22.3 | . | rs111033305 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.43 | M | -3.86 | D | -4.8 | D | 0.998 | 7.355 | 34 | 0.999 | 0.960 | D | 1.092 | D | 0.946 | D | 0.447 | 0 | 5.1 | 0.917 | 1.048 | 0.995 | 0.810 | 18.711 | Deleterious |
| 596 | 7 | 107690203 | C | T | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107690203 | 107690203 | C | T | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon10:c.C1229T:p.T410M | 7q22.3 | 0.0002 | rs111033220 | 0.0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1.000 | D | 3.18 | M | -3.61 | D | -4.03 | D | 0.996 | 7.062 | 33 | 0.999 | 0.898 | D | 1.070 | D | 0.931 | D | 0.447 | 0 | 5.1 | 0.871 | 0.935 | 0.995 | 0.727 | 18.711 | Deleterious |
| 597 | 7 | 107694402 | G | C | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107694402 | 107694402 | G | C | splicing | SLC26A4 | NM_000441:exon11:c.1264-1G>C | . | . | 7q22.3 | . | rs111033311 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.245 | 25.6 | 0.995 | 0.969 | D | . | . | . | . | 0.119 | 0 | 5.93 | 0.917 | 1.048 | 0.999 | 0.992 | 20.336 | Deleterious (FATHMM) |
| 598 | 7 | 107694475 | C | T | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107694475 | 107694475 | C | T | exonic | SLC26A4 | . | stopgain | SLC26A4:NM_000441:exon11:c.C1336T:p.Q446X | 7q22.3 | . | rs397516416 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.961 | 44 | 0.998 | 0.949 | D | . | . | . | . | 0.487 | 0 | 5.93 | 0.871 | 0.935 | 1.000 | 1.000 | 20.336 | Deleterious (FATHMM) |
| 599 | 7 | 107695984 | G | A | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107695984 | 107695984 | G | A | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon13:c.G1489A:p.G497S | 7q22.3 | . | rs111033308 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | A | 3.455 | M | -4.45 | D | -5.78 | D | 0.984 | 7.418 | 34 | 0.999 | 0.993 | D | 1.047 | D | 0.986 | D | 0.487 | 0 | 6.07 | 0.917 | 1.048 | 0.943 | 0.983 | 20.659 | Deleterious |
| 600 | 7 | 107698085 | T | C | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107698085 | 107698085 | T | C | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon14:c.T1588C:p.Y530H | 7q22.3 | . | rs111033254 | 0.019 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | A | 2.82 | M | -3.53 | D | -4.82 | D | 0.965 | 6.335 | 29.3 | 0.999 | 0.988 | D | 1.086 | D | 0.944 | D | 0.487 | 0 | 5.96 | 0.991 | 1.061 | 0.999 | 1.000 | 16.428 | Deleterious |
| 601 | 7 | 107698112 | G | A | Pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107698112 | 107698112 | G | A | splicing | SLC26A4 | NM_000441:exon14:c.1614+1G>A | . | . | 7q22.3 | 7.7e-05 | rs111033312 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 3.240 | 22.8 | 0.960 | 0.990 | D | . | . | . | . | 0.054 | 0 | 5.07 | 0.917 | 1.048 | 0.999 | 0.977 | 16.571 | Deleterious (FATHMM) |
| 602 | 7 | 107710126 | C | T | Pathogenic/Likely pathogenic | SLC26A4 | . | . | . | . | . | . | . | . | . | . | 7 | 107710126 | 107710126 | C | T | exonic | SLC26A4 | . | nonsynonymous SNV | SLC26A4:NM_000441:exon19:c.C2162T:p.T721M | 7q22.3 | . | rs121908363 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | A | 2.56 | M | -3.59 | D | -4.7 | D | 0.962 | 7.293 | 34 | 0.999 | 0.944 | D | 1.017 | D | 0.915 | D | 0.554 | 0 | 5.51 | 0.871 | 0.932 | 0.865 | 0.906 | 19.783 | Deleterious |
| 603 | 7 | 107915506 | G | T | Pathogenic | DLD | . | . | . | . | . | . | . | . | . | . | 7 | 107915506 | 107915506 | G | T | exonic | DLD | . | nonsynonymous SNV | DLD:NM_001289750:exon7:c.G388T:p.G130C,DLD:NM_001289751:exon8:c.G616T:p.G206C,DLD:NM_001289752:exon8:c.G541T:p.G181C,DLD:NM_000108:exon9:c.G685T:p.G229C | 7q31.1 | 0.0002 | rs121964990 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | A | 4.035 | H | 0.3 | T | -8.42 | D | 0.97 | 6.705 | 32 | 0.997 | 0.993 | D | 0.425 | D | 0.577 | D | 0.732 | 0 | 5.79 | 0.917 | 0.902 | 0.990 | 0.919 | 20.035 | Deleterious |
| 604 | 7 | 117611650 | G | A | Pathogenic/Likely pathogenic, not provided | CFTR | . | . | . | . | . | . | . | . | . | . | 7 | 117611650 | 117611650 | G | A | exonic | CFTR | . | nonsynonymous SNV | CFTR:NM_000492:exon20:c.G3209A:p.R1070Q | 7q31.2 | 7.7e-05 | rs78769542 | 0.416 | T | 1.0 | D | 0.998 | D | 0.000 | D | 1 | A | 0.965 | L | -2.67 | D | -0.14 | N | 0.936 | 5.709 | 26.8 | 1.000 | 0.997 | D | 0.447 | D | 0.767 | D | 0.638 | 0 | 5.69 | 0.917 | 0.949 | 0.998 | 0.979 | 19.821 | Deleterious |
| 605 | 7 | 117614699 | G | C | Pathogenic | CFTR | . | . | . | . | . | . | . | . | . | . | 7 | 117614699 | 117614699 | G | C | exonic | CFTR | . | nonsynonymous SNV | CFTR:NM_000492:exon21:c.G3454C:p.D1152H | 7q31.2 | 0.0002 | rs75541969 | 0.005 | D | 0.574 | P | 0.572 | P | 0.000 | D | 1.000 | D | 2.15 | M | -3.51 | D | -2.68 | D | 0.785 | 6.538 | 31 | 0.996 | 0.976 | D | -0.376 | T | 0.407 | T | 0.554 | 0 | 5.9 | 0.917 | 0.902 | 0.997 | 0.991 | 20.270 | Tolerated |
| 606 | 7 | 140749365 | T | G | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140749365 | 140749365 | T | G | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon16:c.T1914C:p.D638D | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 607 | 7 | 140753334 | A | C | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140753334 | 140753334 | A | C | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon15:c.A1801G:p.K601E | 7q34 | . | rs121913364 | 0.0 | D | 0.784 | P | 0.626 | P | 0.000 | D | 1 | D | 0.74 | N | -1.64 | D | -3.71 | D | 0.947 | 4.670 | 24.5 | 0.999 | 0.977 | D | -0.875 | T | 0.186 | T | 0.651 | 0 | 5.65 | 0.991 | 1.057 | 1.000 | 1.000 | 15.933 | Tolerated |
| 608 | 7 | 140753346 | C | G | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140753346 | 140753346 | C | G | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon15:c.C1789C:p.L597L | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 609 | 7 | 140753348 | G | T | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140753348 | 140753348 | G | T | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon15:c.G1787A:p.G596D | 7q34 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.55 | H | -7.57 | D | -6.4 | D | 0.946 | 7.072 | 33 | 0.999 | 0.978 | D | 0.448 | D | 0.625 | D | 0.651 | 0 | 5.65 | 0.871 | 0.931 | 1.000 | 1.000 | 19.792 | Deleterious |
| 610 | 7 | 140753350 | T | G | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140753350 | 140753350 | T | G | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon15:c.T1785C:p.F595F | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 611 | 7 | 140754187 | A | G | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140754187 | 140754187 | A | G | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon14:c.A1741C:p.N581H | 7q34 | . | rs180177040 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.77 | H | -6.86 | D | -4.29 | D | 0.677 | 5.958 | 27.7 | 0.997 | 0.991 | D | 0.938 | D | 0.993 | D | 0.476 | 0 | 5.26 | 0.673 | 1.061 | 1.000 | 1.000 | 15.495 | Deleterious |
| 612 | 7 | 140754233 | T | G | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140754233 | 140754233 | T | G | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon14:c.T1695C:p.D565D | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 613 | 7 | 140778006 | A | T | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778006 | 140778006 | A | T | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon12:c.A1502A:p.E501E | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 614 | 7 | 140778006 | A | G | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778006 | 140778006 | A | G | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon12:c.A1502C:p.E501A | 7q34 | . | rs180177039 | 0.001 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.775 | H | -6.49 | D | -5.52 | D | 0.979 | 6.632 | 32 | 0.997 | 0.996 | D | 0.495 | D | 0.609 | D | 0.732 | 0 | 4.96 | 0.991 | 1.007 | 1.000 | 1.000 | 14.344 | Deleterious |
| 615 | 7 | 140778007 | G | A | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778007 | 140778007 | G | A | exonic | BRAF | . | stopgain | BRAF:NM_004333:exon12:c.G1501T:p.E501X | 7q34 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.756 | 47 | 0.996 | 0.996 | D | . | . | . | . | 0.732 | 0 | 4.96 | 0.871 | 0.888 | 1.000 | 1.000 | 17.868 | Deleterious (FATHMM) |
| 616 | 7 | 140778011 | A | C | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778011 | 140778011 | A | C | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon12:c.A1497G:p.K499K | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 617 | 7 | 140778013 | A | G | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778013 | 140778013 | A | G | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon12:c.A1495C:p.K499Q | 7q34 | . | . | 0.002 | D | 0.018 | B | 0.03 | B | 0.000 | D | 1 | D | -0.345 | N | -1.61 | D | -3.24 | D | 0.755 | 5.937 | 27.6 | 0.994 | 0.996 | D | -0.583 | T | 0.289 | T | 0.732 | 0 | 4.96 | 0.991 | 1.007 | 1.000 | 1.000 | 14.344 | Tolerated |
| 618 | 7 | 140778054 | T | C | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778054 | 140778054 | T | C | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon12:c.T1454G:p.L485W | 7q34 | . | . | 0.0 | D | 0.999 | D | 0.994 | D | 0.000 | D | 1 | D | 3.255 | M | -2.06 | D | -5.61 | D | 0.936 | 5.907 | 27.5 | 0.966 | 0.995 | D | 0.266 | D | 0.536 | D | 0.732 | 0 | 5.03 | 1.062 | 1.136 | 1.000 | 1.000 | 14.464 | Deleterious |
| 619 | 7 | 140778061 | A | C | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140778061 | 140778061 | A | C | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon12:c.A1447G:p.K483E | 7q34 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.87 | H | -7.08 | D | -3.71 | D | 0.969 | 6.300 | 29.1 | 0.999 | 0.991 | D | 0.533 | D | 0.620 | D | 0.732 | 0 | 5.03 | 0.991 | 1.007 | 1.000 | 0.999 | 14.464 | Deleterious |
| 620 | 7 | 140781602 | G | A | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140781602 | 140781602 | G | A | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon11:c.G1406T:p.G469V | 7q34 | . | rs121913355 | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1 | D | 3.685 | H | -2.64 | D | -8.51 | D | 0.988 | 6.897 | 33 | 0.998 | 0.990 | D | 1.028 | D | 0.900 | D | 0.615 | 0 | 5.62 | 0.871 | 0.892 | 1.000 | 1.000 | 17.843 | Deleterious |
| 621 | 7 | 140781605 | T | C | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140781605 | 140781605 | T | C | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon11:c.T1403G:p.F468C | 7q34 | . | . | 0.0 | D | 0.996 | D | 0.959 | D | 0.000 | D | 1 | D | 2.31 | M | -2.55 | D | -7.57 | D | 0.987 | 6.019 | 27.9 | 0.994 | 0.992 | D | -0.343 | T | 0.369 | T | 0.615 | 0 | 5.62 | 1.062 | 1.140 | 0.999 | 1.000 | 14.394 | Tolerated |
| 622 | 7 | 140781617 | G | T | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140781617 | 140781617 | G | T | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon11:c.G1391A:p.G464E | 7q34 | . | rs121913348 | 0.0 | D | 1.0 | D | 0.99 | D | 0.000 | D | 1 | D | 3.59 | H | -2.75 | D | -7.57 | D | 0.998 | 6.860 | 33 | 0.998 | 0.987 | D | 1.013 | D | 0.895 | D | 0.706 | 0 | 5.62 | 0.871 | 0.892 | 0.998 | 1.000 | 17.843 | Deleterious |
| 623 | 7 | 140781617 | G | A | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140781617 | 140781617 | G | A | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon11:c.G1391T:p.G464V | 7q34 | . | rs121913348 | 0.0 | D | 0.999 | D | 0.989 | D | 0.000 | D | 1 | D | 4.05 | H | -2.77 | D | -8.51 | D | 0.998 | 7.056 | 33 | 0.998 | 0.990 | D | 1.058 | D | 0.909 | D | 0.706 | 0 | 5.62 | 0.871 | 0.892 | 0.998 | 1.000 | 17.843 | Deleterious |
| 624 | 7 | 140801502 | A | G | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801502 | 140801502 | A | G | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon6:c.A770C:p.Q257P | 7q34 | . | . | 0.022 | D | 0.998 | D | 0.915 | D | 0.000 | D | 1 | D | 3.58 | H | -3.38 | D | -2.46 | N | 0.871 | 5.669 | 26.7 | 0.994 | 0.988 | D | 1.042 | D | 0.913 | D | 0.651 | 0 | 5.43 | 0.991 | 1.058 | 1.000 | 1.000 | 15.498 | Deleterious |
| 625 | 7 | 140801503 | C | A | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801503 | 140801503 | C | A | exonic | BRAF | . | stopgain | BRAF:NM_004333:exon6:c.C769T:p.Q257X | 7q34 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.523 | 39 | 0.998 | 0.984 | D | . | . | . | . | 0.651 | 0 | 5.43 | 0.917 | 1.045 | 1.000 | 1.000 | 19.258 | Deleterious (FATHMM) |
| 626 | 7 | 140801536 | G | C | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801536 | 140801536 | G | C | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon6:c.G736G:p.A246A | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 627 | 7 | 140801537 | A | T | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801537 | 140801537 | A | T | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon6:c.A735A:p.L245L | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 628 | 7 | 140801537 | A | C | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801537 | 140801537 | A | C | exonic | BRAF | . | synonymous SNV | BRAF:NM_004333:exon6:c.A735G:p.L245L | 7q34 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 629 | 7 | 140801542 | A | C | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801542 | 140801542 | A | C | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon6:c.A730G:p.T244A | 7q34 | . | . | 0.151 | T | 0.116 | B | 0.1 | B | 0.000 | N | 1.000 | D | 0.91 | L | -3.08 | D | -0.46 | N | 0.246 | 1.747 | 14.67 | 0.992 | 0.980 | D | -0.063 | T | 0.604 | D | 0.651 | 0 | 4.01 | 0.991 | 1.058 | 1.000 | 1.000 | 10.913 | Deleterious |
| 630 | 7 | 140801550 | C | T | Pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801550 | 140801550 | C | T | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon6:c.C722A:p.T241K | 7q34 | . | rs387906660 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1 | D | 3.385 | M | -3.11 | D | -4.45 | D | 0.941 | 7.009 | 33 | 0.995 | 0.995 | D | 1.050 | D | 0.910 | D | 0.476 | 0 | 5.17 | 0.917 | 1.045 | 0.993 | 0.992 | 18.677 | Deleterious |
| 631 | 7 | 140801551 | A | C | Pathogenic/Likely pathogenic | BRAF | . | . | . | . | . | . | . | . | . | . | 7 | 140801551 | 140801551 | A | C | exonic | BRAF | . | nonsynonymous SNV | BRAF:NM_004333:exon6:c.A721G:p.T241A | 7q34 | . | . | 0.0 | D | 0.999 | D | 0.978 | D | 0.000 | D | 1 | D | 3.125 | M | -3.15 | D | -3.71 | D | 0.8 | 5.110 | 25.3 | 0.999 | 0.989 | D | 1.035 | D | 0.905 | D | 0.476 | 0 | 5.17 | 0.991 | 1.058 | 0.995 | 0.997 | 15.024 | Deleterious |
| 632 | 7 | 141614164 | C | T | Pathogenic | AGK | . | . | . | . | . | . | . | . | . | . | 7 | 141614164 | 141614164 | C | T | exonic | AGK | . | stopgain | AGK:NM_018238:exon7:c.C409T:p.R137X | 7q34 | . | rs746709222 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.259 | 41 | 0.998 | 0.930 | D | . | . | . | . | 0.651 | 0 | 5.03 | -0.022 | 0.020 | 0.994 | 0.994 | 13.320 | Deleterious (FATHMM) |
| 633 | 7 | 142750600 | A | T | Pathogenic | PRSS1|TRB | . | . | . | . | . | . | . | . | . | . | 7 | 142750600 | 142750600 | A | T | exonic | PRSS1 | . | nonsynonymous SNV | PRSS1:NM_002769:exon2:c.A86T:p.N29I | 7q34 | . | rs111033566 | 0.045 | D | 0.0 | B | 0.001 | B | 0.000 | D | 0.000 | A | 0.965 | L | -2.46 | D | -1.9 | N | 0.271 | 2.306 | 18.21 | 0.912 | 0.722 | D | -0.243 | T | 0.468 | T | 0.616 | 0 | 2.58 | -0.602 | -0.077 | 0.025 | 0.032 | 6.669 | Tolerated |
| 634 | 7 | 143323387 | G | A | Pathogenic/Likely pathogenic | CLCN1 | . | . | . | . | . | . | . | . | . | . | 7 | 143323387 | 143323387 | G | A | splicing | CLCN1 | NM_000083:exon6:c.774+1G>A | . | . | 7q34 | . | rs776073429 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 5.362 | 25.9 | 0.995 | 0.985 | D | . | . | . | . | 0.054 | 0 | 4.27 | 0.917 | 0.953 | 0.996 | 0.997 | 16.962 | Deleterious (FATHMM) |
| 635 | 7 | 143332490 | T | G | Pathogenic | CLCN1 | . | . | . | . | . | . | . | . | . | . | 7 | 143332490 | 143332490 | T | G | exonic | CLCN1 | . | nonsynonymous SNV | CLCN1:NM_000083:exon11:c.T1238G:p.F413C | 7q34 | 7.7e-05 | rs121912799 | 0.0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | A | 2.65 | M | -3.34 | D | -7.36 | D | 0.94 | 6.372 | 29.5 | 0.994 | 0.984 | D | 1.065 | D | 0.880 | D | 0.487 | 0 | 5.29 | 0.991 | 1.051 | 1.000 | 1.000 | 10.472 | Deleterious |
| 636 | 7 | 147903619 | G | A | Pathogenic | CNTNAP2 | . | . | . | . | . | . | . | . | . | . | 7 | 147903619 | 147903619 | G | A | exonic | CNTNAP2 | . | stopgain | CNTNAP2:NM_014141:exon14:c.G2153A:p.W718X | 7q35 | . | rs398124268 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 13.270 | 41 | 0.997 | 0.990 | D | . | . | . | . | 0.487 | 0 | 5.7 | 0.917 | 1.048 | 0.999 | 0.986 | 18.412 | Deleterious (FATHMM) |
| 637 | 7 | 150947440 | C | T | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150947440 | 150947440 | C | T | exonic | KCNH2 | . | synonymous SNV | KCNH2:NM_172057:exon9:c.C2020A:p.R674R,KCNH2:NM_000238:exon13:c.C3040A:p.R1014R | 7q36.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 638 | 7 | 150947478 | G | A | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150947478 | 150947478 | G | A | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_172057:exon9:c.G1982T:p.W661L,KCNH2:NM_000238:exon13:c.G3002T:p.W1001L | 7q36.1 | . | . | 0.061 | T | 0.889 | P | 0.444 | B | 0.000 | D | 0.997 | D | 1.675 | L | -4.88 | D | -5.99 | D | 0.699 | 5.660 | 26.7 | 0.987 | 0.967 | D | 0.968 | D | 0.913 | D | 0.652 | 0 | 4.88 | 0.853 | 0.854 | 1.000 | 1.000 | 15.550 | Deleterious |
| 639 | 7 | 150948861 | C | T | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150948861 | 150948861 | C | T | exonic | KCNH2 | . | synonymous SNV | KCNH2:NM_172057:exon6:c.C1567A:p.R523R,KCNH2:NM_000238:exon10:c.C2587A:p.R863R | 7q36.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 640 | 7 | 150948981 | C | T | Pathogenic/Likely pathogenic, not provided | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150948981 | 150948981 | C | T | exonic | KCNH2 | . | synonymous SNV | KCNH2:NM_172057:exon6:c.C1447A:p.R483R,KCNH2:NM_000238:exon10:c.C2467A:p.R823R | 7q36.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 641 | 7 | 150950246 | G | T | Pathogenic/Likely pathogenic, not provided | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150950246 | 150950246 | G | T | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon5:c.G1300A:p.D434N,KCNH2:NM_172057:exon5:c.G1300A:p.D434N,KCNH2:NM_000238:exon9:c.G2320A:p.D774N,KCNH2:NM_172056:exon9:c.G2320A:p.D774N | 7q36.1 | . | . | 0.001 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.34 | M | -4.49 | D | -4.86 | D | 0.346 | 6.820 | 32 | 0.999 | 0.941 | D | 1.098 | D | 0.965 | D | 0.534 | 0 | 4.84 | 0.871 | 0.807 | 1.000 | 0.998 | 15.465 | Deleterious |
| 642 | 7 | 150951442 | T | C | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951442 | 150951442 | T | C | intronic | KCNH2 | . | . | . | 7q36.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 643 | 7 | 150951546 | A | G | Pathogenic/Likely pathogenic, not provided | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951546 | 150951546 | A | G | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon3:c.A827C:p.Y276S,KCNH2:NM_172057:exon3:c.A827C:p.Y276S,KCNH2:NM_000238:exon7:c.A1847C:p.Y616S,KCNH2:NM_172056:exon7:c.A1847C:p.Y616S | 7q36.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 4.37 | H | -5.28 | D | -8.54 | D | 0.953 | 4.838 | 24.8 | 0.991 | 0.825 | D | 1.048 | D | 0.979 | D | 0.696 | 0 | 3.08 | 0.991 | 0.913 | 1.000 | 0.944 | 8.642 | Deleterious |
| 644 | 7 | 150951552 | C | T | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951552 | 150951552 | C | T | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon3:c.C821A:p.A274E,KCNH2:NM_172057:exon3:c.C821A:p.A274E,KCNH2:NM_000238:exon7:c.C1841A:p.A614E,KCNH2:NM_172056:exon7:c.C1841A:p.A614E | 7q36.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 4.12 | H | -5.23 | D | -4.74 | D | 0.982 | 5.478 | 26.2 | 0.995 | 0.973 | D | 1.040 | D | 0.981 | D | 0.696 | 0 | 4.33 | 0.917 | 0.902 | 0.981 | 0.190 | 14.341 | Deleterious |
| 645 | 7 | 150951583 | G | A | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951583 | 150951583 | G | A | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon3:c.G790T:p.G264C,KCNH2:NM_172057:exon3:c.G790T:p.G264C,KCNH2:NM_000238:exon7:c.G1810T:p.G604C,KCNH2:NM_172056:exon7:c.G1810T:p.G604C | 7q36.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 2.935 | M | -4.57 | D | -7.51 | D | 0.915 | 6.608 | 32 | 0.998 | 0.967 | D | 1.100 | D | 0.958 | D | 0.696 | 0 | 4.33 | 0.871 | 0.807 | 0.983 | 0.990 | 14.341 | Deleterious |
| 646 | 7 | 150951592 | G | A | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951592 | 150951592 | G | A | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon3:c.G781T:p.G261C,KCNH2:NM_172057:exon3:c.G781T:p.G261C,KCNH2:NM_000238:exon7:c.G1801T:p.G601C,KCNH2:NM_172056:exon7:c.G1801T:p.G601C | 7q36.1 | . | rs199472936 | 0.034 | D | 0.998 | D | 0.979 | D | 0.010 | N | 0.951 | D | 0.925 | L | -5.02 | D | -2.34 | N | 0.853 | 5.073 | 25.3 | 0.998 | 0.864 | D | 0.896 | D | 0.904 | D | 0.696 | 0 | 3.37 | 0.871 | 0.807 | 0.992 | 0.969 | 4.649 | Deleterious |
| 647 | 7 | 150951711 | C | T | Pathogenic/Likely pathogenic, not provided | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951711 | 150951711 | C | T | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon3:c.C662A:p.A221E,KCNH2:NM_172057:exon3:c.C662A:p.A221E,KCNH2:NM_000238:exon7:c.C1682A:p.A561E,KCNH2:NM_172056:exon7:c.C1682A:p.A561E | 7q36.1 | . | . | 0.0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.815 | H | -4.98 | D | -4.79 | D | 0.944 | 5.872 | 27.4 | 0.996 | 0.989 | D | 1.073 | D | 0.974 | D | 0.696 | 0 | 4.44 | 0.917 | 0.902 | 0.994 | 0.784 | 14.592 | Deleterious |
| 648 | 7 | 150951738 | T | C | Pathogenic | KCNH2 | . | . | . | . | . | . | . | . | . | . | 7 | 150951738 | 150951738 | T | C | exonic | KCNH2 | . | nonsynonymous SNV | KCNH2:NM_001204798:exon3:c.T635G:p.L212W,KCNH2:NM_172057:exon3:c.T635G:p.L212W,KCNH2:NM_000238:exon7:c.T1655G:p.L552W,KCNH2:NM_172056:exon7:c.T1655G:p.L552W | 7q36.1 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 0.999 | D | 3.35 | M | -5.13 | D | -5.75 | D | 0.785 | 4.158 | 23.8 | 0.963 | 0.960 | D | 1.090 | D | 0.972 | D | 0.696 | 0 | 4.08 | 1.062 | 1.028 | 1.000 | 0.979 | 11.076 | Deleterious |
| 649 | 7 | 151560610 | G | A | Pathogenic | PRKAG2 | . | . | . | . | . | . | . | . | . | . | 7 | 151560610 | 151560610 | G | A | exonic | PRKAG2 | . | nonsynonymous SNV | PRKAG2:NM_024429:exon11:c.G869T:p.R290L,PRKAG2:NM_001304531:exon12:c.G869T:p.R290L,PRKAG2:NM_001304527:exon13:c.G1217T:p.R406L,PRKAG2:NM_001040633:exon15:c.G1460T:p.R487L,PRKAG2:NM_016203:exon15:c.G1592T:p.R531L | 7q36.1 | . | rs121908991 | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1 | D | 3.2 | M | -3.47 | D | -6.44 | D | 0.932 | 8.412 | 35 | 0.999 | 0.994 | D | 1.061 | D | 0.932 | D | 0.706 | 0 | 5.8 | 0.871 | 0.935 | 1.000 | 1.000 | 19.042 | Deleterious |
| 650 | 7 | 151564146 | G | C | Pathogenic/Likely pathogenic | PRKAG2 | . | . | . | . | . | . | . | . | . | . | 7 | 151564146 | 151564146 | G | C | exonic | PRKAG2 | . | synonymous SNV | PRKAG2:NM_024429:exon10:c.G793G:p.E265E,PRKAG2:NM_001304531:exon11:c.G793G:p.E265E,PRKAG2:NM_001304527:exon12:c.G1141G:p.E381E,PRKAG2:NM_001040633:exon14:c.G1384G:p.E462E,PRKAG2:NM_016203:exon14:c.G1516G:p.E506E | 7q36.1 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 651 | 7 | 151576412 | G | A | Pathogenic | PRKAG2 | . | . | . | . | . | . | . | . | . | . | 7 | 151576412 | 151576412 | G | A | exonic | PRKAG2 | . | nonsynonymous SNV | PRKAG2:NM_024429:exon3:c.G182T:p.R61L,PRKAG2:NM_001304531:exon4:c.G182T:p.R61L,PRKAG2:NM_001304527:exon5:c.G530T:p.R177L,PRKAG2:NM_001040633:exon7:c.G773T:p.R258L,PRKAG2:NM_016203:exon7:c.G905T:p.R302L | 7q36.1 | . | rs121908987 | 0.023 | D | 0.91 | P | 0.552 | P | 0.000 | D | 1 | D | 2.75 | M | -2.83 | D | -6.73 | D | 0.987 | 7.090 | 33 | 0.998 | 0.985 | D | 0.742 | D | 0.824 | D | 0.707 | 0 | 4.54 | 0.871 | 0.931 | 0.998 | 0.944 | 13.104 | Deleterious |
| 652 | 8 | 1780415 | G | A | Pathogenic/Likely pathogenic | CLN8 | . | . | . | . | . | . | . | . | . | . | 8 | 1780415 | 1780415 | G | A | exonic | CLN8 | . | nonsynonymous SNV | CLN8:NM_018941:exon3:c.G709A:p.G237R | 8p23.3 | . | rs746645358 | 0.006 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1 | D | 1.555 | L | -2.05 | D | -2.63 | D | 0.977 | 6.028 | 27.9 | 0.999 | 0.988 | D | 0.391 | D | 0.699 | D | 0.707 | 0 | 5.17 | 0.917 | 1.048 | 0.753 | 0.013 | 18.666 | Deleterious |
| 653 | 8 | 6642993 | G | C | Pathogenic/Likely pathogenic | MCPH1|MCPH1-AS1 | . | . | . | . | . | . | . | . | . | . | 8 | 6642993 | 6642993 | G | C | splicing | MCPH1 | NM_024596:exon14:c.2453-1G>C | . | . | 8p23.1 | . | rs587783739 | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 4.544 | 24.3 | 0.994 | 0.908 | D | . | . | . | . | 0.295 | 0 | 4.82 | 0.917 | 0.912 | 0.983 | 0.993 | 13.751 | Deleterious (FATHMM) |
| 654 | 8 | 54625911 | C | T | Pathogenic | RP1 | . | . | . | . | . | . | . | . | . | . | 8 | 54625911 | 54625911 | C | T | exonic | RP1 | . | stopgain | RP1:NM_006269:exon4:c.C2029T:p.R677X | 8q12.1 | . | rs104894082 | . | . | . | . | . | . | 0.224 | N | 1 | A | . | . | . | . | . | . | . | 8.818 | 35 | 0.996 | 0.705 | D | . | . | . | . | 0.497 | 0 | 4.79 | 0.871 | 0.892 | 0.882 | 0.402 | 11.832 | Deleterious (FATHMM) |
| 655 | 8 | 60741901 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60741901 | 60741901 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_001316690:exon1:c.C469T:p.R157X,CHD7:NM_017780:exon2:c.C469T:p.R157X | 8q12.2 | . | rs794727293 | . | . | . | . | . | . | 0.006 | N | 1 | A | . | . | . | . | . | . | . | 9.820 | 36 | 0.997 | 0.685 | D | . | . | . | . | 0.737 | 0 | 4.28 | -0.058 | 0.935 | 0.998 | 0.998 | 14.927 | Deleterious (FATHMM) |
| 656 | 8 | 60742897 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60742897 | 60742897 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_001316690:exon1:c.C1465T:p.Q489X,CHD7:NM_017780:exon2:c.C1465T:p.Q489X | 8q12.2 | . | rs794727298 | . | . | . | . | . | . | 0.002 | N | 1 | A | . | . | . | . | . | . | . | 12.083 | 38 | 0.998 | 0.943 | D | . | . | . | . | 0.707 | 0 | 5.39 | 0.871 | 0.935 | 0.990 | 1.000 | 19.144 | Deleterious (FATHMM) |
| 657 | 8 | 60742912 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60742912 | 60742912 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_001316690:exon1:c.C1480T:p.R494X,CHD7:NM_017780:exon2:c.C1480T:p.R494X | 8q12.2 | . | rs587783429 | . | . | . | . | . | . | 0.008 | N | 1 | A | . | . | . | . | . | . | . | 12.173 | 38 | 0.998 | 0.774 | D | . | . | . | . | 0.707 | 0 | 5.39 | 0.871 | 0.935 | 0.997 | 1.000 | 14.038 | Deleterious (FATHMM) |
| 658 | 8 | 60822627 | A | G | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60822627 | 60822627 | A | G | exonic | CHD7 | . | nonsynonymous SNV | CHD7:NM_017780:exon12:c.A3082G:p.I1028V | 8q12.2 | . | rs121434338 | 0.048 | D | 0.752 | P | 0.894 | P | 0.000 | D | 1 | A | 0.425 | N | -3.22 | D | -0.89 | N | 0.812 | 4.949 | 25.0 | 0.999 | 0.988 | D | 0.815 | D | 0.790 | D | 0.732 | 0 | 5.53 | 1.062 | 1.199 | 1.000 | 1.000 | 15.951 | Deleterious |
| 659 | 8 | 60838115 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60838115 | 60838115 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_017780:exon19:c.C4393T:p.R1465X | 8q12.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.204 | 45 | 0.998 | 0.912 | D | . | . | . | . | 0.707 | 0 | 5.32 | 0.871 | 0.935 | 0.995 | 0.996 | 15.036 | Deleterious (FATHMM) |
| 660 | 8 | 60838202 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60838202 | 60838202 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_017780:exon19:c.C4480T:p.R1494X | 8q12.2 | . | rs587783442 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.172 | 45 | 0.998 | 0.948 | D | . | . | . | . | 0.707 | 0 | 4.42 | 0.871 | 0.935 | 0.961 | 0.915 | 15.398 | Deleterious (FATHMM) |
| 661 | 8 | 60850486 | G | A | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60850486 | 60850486 | G | A | intronic | CHD7 | . | . | . | 8q12.2 | . | rs398124321 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | probably Tolerated (Intron) |
| 662 | 8 | 60850546 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60850546 | 60850546 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_017780:exon26:c.C5458T:p.R1820X | 8q12.2 | . | rs587783446 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 14.195 | 45 | 0.998 | 0.960 | D | . | . | . | . | 0.722 | 0 | 5.49 | 0.871 | 0.935 | 1.000 | 1.000 | 14.236 | Deleterious (FATHMM) |
| 663 | 8 | 60852682 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60852682 | 60852682 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_017780:exon30:c.C6079T:p.R2027X | 8q12.2 | . | . | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.447 | 39 | 0.997 | 0.991 | D | . | . | . | . | 0.707 | 0 | 3.64 | 0.871 | -0.424 | 0.996 | 0.991 | 14.487 | Deleterious (FATHMM) |
| 664 | 8 | 60852882 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60852882 | 60852882 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_017780:exon31:c.C6157T:p.R2053X | 8q12.2 | . | rs587783450 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 11.115 | 37 | 0.996 | 0.914 | D | . | . | . | . | 0.707 | 0 | 2.85 | 0.067 | 0.182 | 0.790 | 0.188 | 12.740 | Deleterious (FATHMM) |
| 665 | 8 | 60854437 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60854437 | 60854437 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_017780:exon32:c.C6850T:p.R2284X | 8q12.2 | . | rs587783454 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 15.585 | 51 | 0.998 | 0.894 | D | . | . | . | . | 0.737 | 0 | 5.79 | 0.871 | 0.852 | 1.000 | 1.000 | 14.817 | Deleterious (FATHMM) |
| 666 | 8 | 60862256 | C | T | Pathogenic | CHD7 | . | . | . | . | . | . | . | . | . | . | 8 | 60862256 | 60862256 | C | T | exonic | CHD7 | . | stopgain | CHD7:NM_001316690:exon3:c.C1744T:p.R582X,CHD7:NM_017780:exon36:c.C7891T:p.R2631X | 8q12.2 | . | rs587783457 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 16.166 | 54 | 0.998 | 0.994 | D | . | . | . | . | 0.707 | 0 | 5.56 | 0.871 | 0.931 | 1.000 | 1.000 | 19.601 | Deleterious (FATHMM) |
| 667 | 8 | 64596913 | G | A | Pathogenic | CYP7B1 | . | . | . | . | . | . | . | . | . | . | 8 | 64596913 | 64596913 | G | A | exonic | CYP7B1 | . | nonsynonymous SNV | CYP7B1:NM_004820:exon6:c.G1250T:p.R417L | 8q12.3 | . | . | 0.0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 4.065 | H | -4.29 | D | -6.74 | D | 0.986 | 8.537 | 35 | 0.999 | 0.994 | D | 1.085 | D | 0.970 | D | 0.554 | 0 | 5.22 | 0.871 | 0.935 | 0.997 | 0.994 | 18.762 | Deleterious |
| 668 | 8 | 64616207 | C | T | Pathogenic | CYP7B1 | . | . | . | . | . | . | . | . | . | . | 8 | 64616207 | 64616207 | C | T | exonic | CYP7B1 | . | synonymous SNV | CYP7B1:NM_004820:exon3:c.C334A:p.R112R | 8q12.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 669 | 8 | 74360184 | C | T | Pathogenic | GDAP1 | . | . | . | . | . | . | . | . | . | . | 8 | 74360184 | 74360184 | C | T | exonic | GDAP1 | . | nonsynonymous SNV | GDAP1:NM_001040875:exon3:c.C154T:p.R52W,GDAP1:NM_018972:exon3:c.C358T:p.R120W | 8q21.11 | . | rs104894078 | 0.001 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1.000 | A | 1.7 | L | -5.45 | D | -3.41 | D | 0.991 | 7.361 | 34 | 0.999 | 0.864 | D | 1.139 | D | 0.967 | D | 0.706 | 0 | 4.64 | 0.871 | 0.935 | 1.000 | 0.993 | 12.452 | Deleterious |
| 670 | 8 | 74361886 | C | T | Pathogenic | GDAP1 | . | . | . | . | . | . | . | . | . | . | 8 | 74361886 | 74361886 | C | T | exonic | GDAP1 | . | stopgain | GDAP1:NM_001040875:exon4:c.C283T:p.Q95X,GDAP1:NM_018972:exon4:c.C487T:p.Q163X | 8q21.11 | . | rs104894077 | . | . | . | . | . | . | 0.000 | D | 1 | A | . | . | . | . | . | . | . | 12.877 | 40 | 0.998 | 0.978 | D | . | . | . | . | 0.732 | 0 | 5.27 | 0.871 | 0.935 | 0.999 | 0.999 | 19.088 | Deleterious (FATHMM) |
| 671 | 8 | 86625982 | G | A | Pathogenic/Likely pathogenic | CNGB3 | . | . | . | . | . | . | . | . | . | . | 8 | 86625982 | 86625982 | G | A | splicing | CNGB3 | NM_019098:exon13:c.1578+1C>T | . | . | 8q21.3 | . | . | . | . | . | . | . | . | . | . | 1 | D | . | . | . | . | . | . | . | 6.135 | 28.4 | 0.996 | 0.997 | D | . | . | . | . | 0.061 | 0 | 5.37 | 0.871 | 0.935 | 0.981 | 0.994 | 19.113 | Deleterious (FATHMM) |
| 672 | 8 | 86643810 | G | A | Pathogenic/Likely pathogenic | CNGB3 | . | . | . | . | . | . | . | . | . | . | 8 | 86643810 | 86643810 | G | A | exonic | CNGB3 | . | nonsynonymous SNV | CNGB3:NM_019098:exon10:c.G1119T:p.W373C | 8q21.3 | . | . | 0.083 | T | 0.18 | B | 0.191 | B | 0.000 | D | 1 | D | 2.585 | M | -4.39 | D | -11.47 | D | 0.485 | 3.894 | 23.5 | 0.977 | 0.947 | D | 0.897 | D | 0.897 | D | 0.487 | 0 | 4.55 | 0.871 | 0.852 | 1.000 | 1.000 | 14.159 | Deleterious |
| 673 | 8 | 89943297 | C | T | Pathogenic | NBN | . | . | . | . | . | . | . | . | . | . | 8 | 89943297 | 89943297 | C | T | exonic | NBN | . | synonymous SNV | NBN:NM_002485:exon14:c.C2140A:p.R714R,NBN:NM_001024688:exon15:c.C1894A:p.R632R | 8q21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |
| 674 | 8 | 89943320 | C | G | Pathogenic | NBN | . | . | . | . | . | . | . | . | . | . | 8 | 89943320 | 89943320 | C | G | exonic | NBN | . | synonymous SNV | NBN:NM_002485:exon14:c.C2117C:p.S706S,NBN:NM_001024688:exon15:c.C1871C:p.S624S | 8q21.3 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | . | Tolerated (synonymous) |